(used for variant description)
(last modified October 27, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_015311.2 in the OBSL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering OBSL1 transcript NM_015311.2.
(upstream sequence)
. g.5014
ggctcctaagagca c.-301
. . . . . . g.5074
ggaagccaggcagcgggcaggggaggctgcggggccactcgctggagaggcaaacaggaa c.-241
. . . . . . g.5134
ggactgccccctgagcgccaggcttcgggcccgggaatcgccgccgccgccgccgcagag c.-181
. . . . . . g.5194
ctgcagctcggggccgagggtaaggaggcgagccgggagcgggaggcccgggagagctcc c.-121
. . . . . . g.5254
gcgggtccccgcgcccagtccccagccgcgccccgaccccgccgccccgggcctcggctc c.-61
. . . . . . g.5314
gccctccgcacccccccctgcccccccaccgttcgccgctgcaggcggtcggccgccgcg c.-1
. . . . . . g.5374
ATGAAGGCGAGCTCGGGGGATCAGGGGAGCCCCCCGTGCTTCCTGCGCTTCCCGCGGCCT c.60
M K A S S G D Q G S P P C F L R F P R P p.20
. . . . . . g.5434
GTGCGGGTGGTAAGTGGCGCCGAGGCCGAGCTCAAGTGCGTGGTCCTGGGGGAGCCGCCG c.120
V R V V S G A E A E L K C V V L G E P P p.40
. . . . . . g.5494
CCTGTAGTGGTGTGGGAGAAGGGCGGGCAGCAGCTGGCGGCCTCGGAACGCCTGAGCTTC c.180
P V V V W E K G G Q Q L A A S E R L S F p.60
. . . . . . g.5554
CCGGCGGACGGCGCGGAGCACGGCCTGCTGCTGACCGCCGCACTGCCCACCGACGCGGGG c.240
P A D G A E H G L L L T A A L P T D A G p.80
. . . . . . g.5614
GTCTACGTGTGCCGCGCCCGCAACGCGGCCGGCGAGGCCTACGCGGCGGCCGCCGTCACC c.300
V Y V C R A R N A A G E A Y A A A A V T p.100
. . . . . . g.5674
GTGCTGGAGCCGCCGGCCTCCGACCCCGAGCTGCAGCCCGCCGAGCGCCCGCTGCCATCG c.360
V L E P P A S D P E L Q P A E R P L P S p.120
. . . . . . g.5734
CCGGGGTCCGGGGAGGGCGCCCCGGTCTTCCTCACGGGGCCTCGATCCCAGTGGGTGCTG c.420
P G S G E G A P V F L T G P R S Q W V L p.140
. . . . . . g.5794
CGGGGGGCGGAGGTGGTGCTGACGTGCCGGGCGGGGGGCCTCCCCGAGCCCACACTGTAC c.480
R G A E V V L T C R A G G L P E P T L Y p.160
. . . . . . g.5854
TGGGAGAAGGACGGGATGGCCCTGGACGAAGTGTGGGACAGCAGCCACTTCGCGCTCCAG c.540
W E K D G M A L D E V W D S S H F A L Q p.180
. . . . . . g.5914
CCGGGCCGCGCCGAGGACGGCCCCGGCGCGAGCCTGGCACTGCGCATCCTGGCGGCTCGG c.600
P G R A E D G P G A S L A L R I L A A R p.200
. . . . . . g.5974
CTGCCGGATTCCGGCGTCTACGTGTGCCACGCCCGCAACGCGCACGGCCACGCGCAGGCG c.660
L P D S G V Y V C H A R N A H G H A Q A p.220
. . . . . . g.6034
GGGGCGCTGCTCCAGGTGCACCAGCCCCCCGAGAGCCCGCCCGCGGACCCCGACGAGGCC c.720
G A L L Q V H Q P P E S P P A D P D E A p.240
. . . . . . g.6094
CCCGCGCCGGTGGTGGAGCCGCTCAAGTGCGCGCCTAAGACCTTCTGGGTGAACGAGGGC c.780
P A P V V E P L K C A P K T F W V N E G p.260
. . . . . . g.6154
AAGCACGCCAAGTTCCGCTGCTACGTGATGGGCAAGCCCGAGCCCGAGATCGAATGGCAC c.840
K H A K F R C Y V M G K P E P E I E W H p.280
. . . . . . g.6214
TGGGAGGGCCGCCCGCTGCTCCCGGACCGCCGCCGCCTCATGTACCGCGACCGCGACGGC c.900
W E G R P L L P D R R R L M Y R D R D G p.300
. . . . . . g.6274
GGCTTCGTGCTCAAGGTGCTTTACTGCCAGGCCAAGGATCGTGGGCTCTACGTCTGCGCC c.960
G F V L K V L Y C Q A K D R G L Y V C A p.320
. . . . . | 02 . g.8230
GCGCGCAACTCGGCGGGCCAGACGCTCAGTGCCGTGCAGCTGCACGTGAAAG | AGCCCCGC c.1020
A R N S A G Q T L S A V Q L H V K E | P R p.340
. . . . . . g.8290
CTCCGGTTCACACGGCCCCTGCAGGACGTGGAGGGCCGTGAGCACGGGATTGCCGTGCTG c.1080
L R F T R P L Q D V E G R E H G I A V L p.360
. . . . . . g.8350
GAATGTAAAGTACCCAACTCCCGCATCCCCACGGCCTGGTTCCGTGAGGACCAGCGGCTG c.1140
E C K V P N S R I P T A W F R E D Q R L p.380
. . . . . . g.8410
CTGCCCTGCCGCAAGTACGAGCAGATCGAAGAGGGCACTGTCCGGCGCCTCATCATCCAC c.1200
L P C R K Y E Q I E E G T V R R L I I H p.400
. . . . . . g.8470
AGGCTGAAGGCAGACGATGATGGTATCTACCTGTGCGAGATGCGGGGCCGGGTGCGCACC c.1260
R L K A D D D G I Y L C E M R G R V R T p.420
. . | 03 . . . . g.8615
GTGGCCAACGTCACAGTCAAAG | GGCCCATCCTGAAGCGCCTGCCCCGGAAGCTCGACGTC c.1320
V A N V T V K G | P I L K R L P R K L D V p.440
. . . . . . g.8675
CTGGAAGGAGAGAATGCTGTGCTGCTAGTGGAAACTCTAGAGGCCGGGGTCGAGGGACGC c.1380
L E G E N A V L L V E T L E A G V E G R p.460
. . . . . . g.8735
TGGAGCCGTGATGGGGAGGAGCTGCCGGTCATCTGCCAGAGCAGCTCAGGCCACATGCAT c.1440
W S R D G E E L P V I C Q S S S G H M H p.480
. . . . . . g.8795
GCCCTGGTCCTTCCAGGGGTCACCCGAGAGGATGCTGGCGAGGTCACCTTTAGCCTGGGC c.1500
A L V L P G V T R E D A G E V T F S L G p.500
. . . | 04 . . . g.8997
AACTCCCGTACCACTACGCTTCTCAGAGTAAAAT | GTGTCAAGCACAGTCCCCCAGGACCC c.1560
N S R T T T L L R V K C | V K H S P P G P p.520
. . . . . . g.9057
CCCATATTGGCAGAGATGTTCAAGGGCCACAAGAACACGGTCCTGTTGACCTGGAAGCCT c.1620
P I L A E M F K G H K N T V L L T W K P p.540
. . . . . . g.9117
CCCGAGCCAGCTCCCGAGACCCCATTCATCTACCGGCTGGAGCGGCAGGAAGTGGGCTCT c.1680
P E P A P E T P F I Y R L E R Q E V G S p.560
. . . . . . g.9177
GAAGACTGGATTCAGTGCTTCAGCATCGAGAAAGCCGGAGCCGTGGAGGTGCCGGGCGAC c.1740
E D W I Q C F S I E K A G A V E V P G D p.580
. . . . . . g.9237
TGTGTGCCCTCCGAGGGTGACTACCGCTTCCGCATCTGCACAGTCAGCGGACATGGCCGT c.1800
C V P S E G D Y R F R I C T V S G H G R p.600
. . . | 05. . . g.9443
AGTCCCCACGTGGTGTTCCACGGTTCTGCTCACCTTG | TGCCCACAGCTCGCCTGGTGGCA c.1860
S P H V V F H G S A H L V | P T A R L V A p.620
. . . . . . g.9503
GGTCTGGAGGATGTGCAGGTATACGACGGGGAAGATGCCGTCTTCTCCCTCGATCTCTCC c.1920
G L E D V Q V Y D G E D A V F S L D L S p.640
. . . . . . g.9563
ACCATCATCCAGGGTACCTGGTTCCTTAATGGGGAAGAGCTCAAGAGTAACGAGCCGGAG c.1980
T I I Q G T W F L N G E E L K S N E P E p.660
. . . . . . g.9623
GGCCAGGTGGAACCTGGGGCCCTGCGGTACCGTATAGAGCAGAAGGGTCTGCAGCACAGA c.2040
G Q V E P G A L R Y R I E Q K G L Q H R p.680
. . . . . . g.9683
CTCATCCTGCATGCCGTCAAGCACCAGGACAGCGGTGCCCTGGTCGGCTTCAGCTGCCCC c.2100
L I L H A V K H Q D S G A L V G F S C P p.700
. . . | 06 . . . g.11058
GGCGTGCAGGACTCAGCTGCCCTCACAATCCAAG | AGAGCCCGGTGCACATCCTGAGCCCC c.2160
G V Q D S A A L T I Q E | S P V H I L S P p.720
. . . . . . g.11118
CAGGACAGGGTGTCGTTGACCTTCACAACCTCAGAGCGGGTGGTGCTGACTTGTGAGCTC c.2220
Q D R V S L T F T T S E R V V L T C E L p.740
. . . . . . g.11178
TCAAGGGTGGACTTCCCGGCAACCTGGTACAAGGATGGGCAGAAGGTGGAGGAGAGCGAG c.2280
S R V D F P A T W Y K D G Q K V E E S E p.760
. . . . . . g.11238
TTGCTGGTGGTGAAGATGGATGGGCGCAAACACCGTCTGATCCTGCCTGAGGCCAAAGTC c.2340
L L V V K M D G R K H R L I L P E A K V p.780
. . . . . . g.11298
CAGGACAGTGGCGAGTTTGAGTGCAGGACAGAAGGGGTCTCGGCCTTCTTCGGCGTCACT c.2400
Q D S G E F E C R T E G V S A F F G V T p.800
| 07. . . . . . g.12972
GTCCAAG | ATCCTCCCGTGCACATCGTGGACCCCCGAGAACATGTGTTCGTGCATGCCATA c.2460
V Q D | P P V H I V D P R E H V F V H A I p.820
. . . . . . g.13032
ACTTCCGAGTGTGTCATGCTGGCCTGTGAGGTGGACCGAGAGGACGCCCCTGTGCGTTGG c.2520
T S E C V M L A C E V D R E D A P V R W p.840
. . . . . . g.13092
TACAAGGACGGGCAGGAGGTGGAGGAGAGTGACTTCGTGGTGCTGGAGAATGAGGGGCCC c.2580
Y K D G Q E V E E S D F V V L E N E G P p.860
. . . . . . g.13152
CATCGCCGCCTGGTGCTGCCCGCCACCCAGCCCTCAGACGGGGGCGAGTTTCAGTGCGTC c.2640
H R R L V L P A T Q P S D G G E F Q C V p.880
. . . . | 08 . . g.13892
GCTGGAGATGAGTGTGCCTACTTCACTGTCACCATCACAG | ACGTCTCCTCGTGGATCGTG c.2700
A G D E C A Y F T V T I T D | V S S W I V p.900
. . . . . . g.13952
TATCCCAGCGGCAAGGTGTATGTGGCAGCCGTGCGCCTGGAGCGTGTGGTGCTGACCTGT c.2760
Y P S G K V Y V A A V R L E R V V L T C p.920
. . . . . . g.14012
GAGCTATGCCGGCCCTGGGCAGAGGTGCGCTGGACCAAGGATGGAGAGGAGGTGGTGGAG c.2820
E L C R P W A E V R W T K D G E E V V E p.940
. . . . . . g.14072
AGCCCCGCGCTGCTCCTGCAGAAGGAAGACACTGTCCGCCGCCTGGTGCTGCCCGCTGTC c.2880
S P A L L L Q K E D T V R R L V L P A V p.960
. . . . . . g.14132
CAGCTCGAGGACTCCGGCGAGTACTTGTGTGAAATTGACGATGAGTCGGCCTCCTTCACT c.2940
Q L E D S G E Y L C E I D D E S A S F T p.980
. | 09 . . . . . g.17096
GTCACCGTCACAG | AACCCCCAGTGCGGATCATATACCCTCGCGATGAGGTGACCTTGATC c.3000
V T V T E | P P V R I I Y P R D E V T L I p.1000
. . . . . . g.17156
GCCGTGACCTTGGAGTGTGTGGTGCTGATGTGTGAACTGTCTCGGGAGGATGCCCCTGTG c.3060
A V T L E C V V L M C E L S R E D A P V p.1020
. . . . . . g.17216
CGCTGGTACAAGGATGGGCTGGAAGTGGAGGAGAGCGAGGCCCTGGTGCTGGAGAGGGAT c.3120
R W Y K D G L E V E E S E A L V L E R D p.1040
. . . . . . g.17276
GGGCCACGCTGCCGCCTGGTGCTACCTGCTGCTCAGCCCGAGGACGGGGGCGAGTTTGTA c.3180
G P R C R L V L P A A Q P E D G G E F V p.1060
. . . . | 10 . . g.18101
TGTGATGCTGGAGATGACTCGGCCTTCTTCACTGTCACTGTCACAG | CCCCACCAGAGAGG c.3240
C D A G D D S A F F T V T V T A | P P E R p.1080
. . . . . . g.18161
ATTGTGCACCCGGCAGCCCGCTCCCTGGATCTGCATTTTGGGGCTCCAGGGCGCGTGGAG c.3300
I V H P A A R S L D L H F G A P G R V E p.1100
. . . . . . g.18221
CTGCGCTGTGAGGTGGCCCCAGCTGGGTCTCAGGTGCGCTGGTACAAGGACGGGCTGGAA c.3360
L R C E V A P A G S Q V R W Y K D G L E p.1120
. . . . . . g.18281
GTGGAGGCATCAGATGCCCTGCAGCTGGGTGCCGAGGGGCCCACCCGCACCCTGACCCTG c.3420
V E A S D A L Q L G A E G P T R T L T L p.1140
. . . . . . g.18341
CCCCACGCCCAGCCTGAGGACGCCGGGGAGTATGTGTGTGAGACCCGGCATGAGGCCATC c.3480
P H A Q P E D A G E Y V C E T R H E A I p.1160
. . | 11 . . . . g.18474
ACCTTCAATGTCATCCTGGCTG | AGCCTCCAGTGCAGTTCCTTGCTCTAGAGACAACTCCA c.3540
T F N V I L A E | P P V Q F L A L E T T P p.1180
. . . . . . g.18534
AGCCCGCTCTGTGTGGCCCCTGGGGAGCCAGTGGTGCTGAGCTGTGAACTGTCCCGGGCT c.3600
S P L C V A P G E P V V L S C E L S R A p.1200
. . . . . . g.18594
GGCGCCCCCGTGGTCTGGAGCCACAATGGGAGGCCCGTGCAGGAGGGCGAGGGCCTAGAG c.3660
G A P V V W S H N G R P V Q E G E G L E p.1220
. . . . . . g.18654
CTCCATGCCGAGGGCCCCCGCCGAGTCCTCTGCATCCAGGCTGCAGGCCCAGCCCATGCA c.3720
L H A E G P R R V L C I Q A A G P A H A p.1240
. . . . . . g.18714
GGGCTCTACACCTGCCAGTCTGGAGCAGCCCCCGGAGCCCCAAGCCTCAGCTTCACCGTC c.3780
G L Y T C Q S G A A P G A P S L S F T V p.1260
. | 12 . . . . . g.18978
CAGGTGGCTG | AGCCCCCTGTGCGGGTGGTAGCTCCCGAGGCAGCCCAGACGAGGGTTCGG c.3840
Q V A E | P P V R V V A P E A A Q T R V R p.1280
. . . . . . g.19038
AGCACCCCAGGCGGGGACCTAGAGCTGGTGGTGCACCTCTCCGGGCCAGGGGGCCCTGTA c.3900
S T P G G D L E L V V H L S G P G G P V p.1300
. . . . . . g.19098
CGCTGGTACAAGGACGGGGAGCGACTGGCAAGCCAGGGGCGGGTGCAGCTGGAGCAGGCC c.3960
R W Y K D G E R L A S Q G R V Q L E Q A p.1320
. . . . . . g.19158
GGGGCCAGGCAGGTGCTGCGGGTGCAGGGGGCACGGAGCGGGGACGCTGGGGAGTACCTG c.4020
G A R Q V L R V Q G A R S G D A G E Y L p.1340
. . . . | 13 . . g.19837
TGCGATGCGCCCCAGGACAGCCGCATCTTCCTTGTCAGCGTGGAAG | AGCCACTGCTGGTG c.4080
C D A P Q D S R I F L V S V E E | P L L V p.1360
. . . . . . g.19897
AAGCTGGTCTCGGAGCTGACACCACTCACTGTCCACGAGGGCGATGATGCCACGTTCCGG c.4140
K L V S E L T P L T V H E G D D A T F R p.1380
. . . . . . g.19957
TGTGAAGTCTCCCCACCAGATGCCGATGTCACCTGGCTGCGCAATGGGGCCGTCGTCACT c.4200
C E V S P P D A D V T W L R N G A V V T p.1400
. . . . . . g.20017
CCAGGGCCCCAGGTGGAGATGGCCCAGAATGGTTCAAGCCGCATCTTAACCTTGCGAGGC c.4260
P G P Q V E M A Q N G S S R I L T L R G p.1420
. . . . . . g.20077
TGCCAACTGGGGGATGCAGGGACCGTGACTTTGCGGGCAGGGAGCACGGCCACAAGTGCC c.4320
C Q L G D A G T V T L R A G S T A T S A p.1440
. | 14 . . . . . g.20298
CGGCTCCATGTTCGAG | AGACAGAGCTGCTGTTCCTACGGCGGTTGCAGGATGTGCGGGCA c.4380
R L H V R E | T E L L F L R R L Q D V R A p.1460
. . . . . . g.20358
GAGGAAGGCCAGGATGTGTGTCTCGAAGTGGAGACAGGCCGAGTGGGTGCAGCGGGGGCC c.4440
E E G Q D V C L E V E T G R V G A A G A p.1480
. . . . . . g.20418
GTGCGCTGGGTGCGAGGTGGGCAGCCCCTGCCCCACGACTCTCGCCTGTCCATGGCCCAG c.4500
V R W V R G G Q P L P H D S R L S M A Q p.1500
. . . . . . g.20478
GATGGGCACATCCACCGCCTCTTCATCCATGGTGTCATACTGGCCGACCAGGGCACCTAC c.4560
D G H I H R L F I H G V I L A D Q G T Y p.1520
. . . . | 15 . g.21817
GGCTGCGAGAGCCACCACGATCGCACCCTGGCCAGGCTCAGCGTGAGGC | CGAGGCAGCTG c.4620
G C E S H H D R T L A R L S V R P | R Q L p.1540
. . . . . . g.21877
AGGGTGCTGCGGCCTCTGGAGGACGTGACCATCAGTGAGGGGGGCAGTGCCACCTTCCAG c.4680
R V L R P L E D V T I S E G G S A T F Q p.1560
. . . . . . g.21937
CTGGAGCTGTCCCAGGAAGGTGTGACCGGGGAGTGGGCCCGGGGTGGAGTACAGCTGTAT c.4740
L E L S Q E G V T G E W A R G G V Q L Y p.1580
. . . . . . g.21997
CCAGGACCCAAGTGTCACATCCACTCGGACGGCCACCGTCACCGACTGGTACTCAATGGC c.4800
P G P K C H I H S D G H R H R L V L N G p.1600
. . . . . . g.22057
CTGGGCCTGGCCGACTCAGGCTGTGTCTCCTTCACAGCGGATTCCCTGCGCTGCGCAGCC c.4860
L G L A D S G C V S F T A D S L R C A A p.1620
. | 16 . . . . . g.22904
AGACTCATTGTGAGAG | AGGTCCCAGTGACCATCGTGCGGGGGCCACACGACCTAGAGGTG c.4920
R L I V R E | V P V T I V R G P H D L E V p.1640
. . . . . . g.22964
ACCGAGGGCGACACAGCTACGTTCGAGTGCGAGCTTTCCCAAGCTTTGGCTGATGTTACC c.4980
T E G D T A T F E C E L S Q A L A D V T p.1660
| 17 . . . . . g.23573
TGGGAGAAG | GACGGGAACGCGCTTACGCCTAGCCCGCGGCTCCGGCTCCAGGCCCTCGGC c.5040
W E K | D G N A L T P S P R L R L Q A L G p.1680
. . . . . . g.23633
ACGCGCCGCCTTCTCCAGCTGCGACGCTGCGGCCCCTCGGACGCCGGGACCTACAGCTGC c.5100
T R R L L Q L R R C G P S D A G T Y S C p.1700
. . . . | 18 . . g.23863
GCGGTGGGGACGGCCCGCGCCGGACCGGTCCGCCTGACCGTGCGCG | AGCGTACTGTGGCG c.5160
A V G T A R A G P V R L T V R E | R T V A p.1720
. . . . . . g.23923
GTACTCTCCGAGCTGCGGTCGGTGAGCGCCCGCGAAGGCGACGGCGCTACGTTCGAGTGC c.5220
V L S E L R S V S A R E G D G A T F E C p.1740
. . . . . . g.23983
ACCGTGTCGGAGGTCGAGACCACGGGGCGCTGGGAGCTCGGAGGCCGCCCGCTGAGACCC c.5280
T V S E V E T T G R W E L G G R P L R P p.1760
. . | 19 . . . g.24362
GGAGCCCGCGTCCGCATCCGACAGGAAG | GGAAGAAACACATTCTGGTGCTTAGCGAGCTG c.5340
G A R V R I R Q E G | K K H I L V L S E L p.1780
. . . . . . g.24422
CGCGCCGAGGACGCCGGTGAAGTCCGCTTCCAGGCGGGGCCCGCCCAGTCCCTGGCTCTA c.5400
R A E D A G E V R F Q A G P A Q S L A L p.1800
. | 20 . . . . . g.24795
CTGGAAGTGGAGG | CATTGCCTCTCCAGATGTGCCGCCACCCCCCTCGCGAGAAGACCGTT c.5460
L E V E A | L P L Q M C R H P P R E K T V p.1820
. . . . . . g.24855
CTGGTGGGCCGCCGGGCGGTGCTGGAGGTGACTGTGTCCCGCTCGGGGGGCCACGTGTGC c.5520
L V G R R A V L E V T V S R S G G H V C p.1840
. . . . . . g.24915
TGGCTGCGGGAGGGGGCCGAGCTGTGCCCGGGAGATAAGTATGAGATGCGCAGCCACGGC c.5580
W L R E G A E L C P G D K Y E M R S H G p.1860
. . . . . . g.24975
CCCACCCACAGCCTGGTCATCCATGACGTTCGACCTGAGGACCAAGGCACTTACTGCTGC c.5640
P T H S L V I H D V R P E D Q G T Y C C p.1880
. . . . | 21 . g.25721
CAGGCCGGCCAGGACAGCACCCACACACGGCTGCTGGTAGAGG | GCAACTAG c.5691
Q A G Q D S T H T R L L V E G | N X p.1896
. . . . . . g.25781
gagaacctaaccaggccaggcgggtgcccttggacagcttggaaggcgtttgcccttacc c.*60
. . . . g.25828
ctgggcaggggtagagagacaaggaacaataaaagtgctacagctca c.*107
(downstream sequence)
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