(used for variant description)
(last modified July 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_006929.4 in the SKIV2L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032652.1, covering SKIV2L transcript NM_006929.4.
(upstream sequence)
. . g.5029
cgtagcgcccgcagagcaacgcaaagagg c.-361
. . . . . . g.5089
aagaacagagaaacggctatgagaaaaagggccgaagagtgagaagcagagggccttacc c.-301
. . . . . . g.5149
cgagggggcggcaaccgggggccccacggtctccggccgcgcccgcgctggccgctgata c.-241
. . . . . . g.5209
gcgggctcacaacgatgacgtagcgaggagcggaaaacgcggtaaccaaggcggccccag c.-181
. . . . . . g.5269
gcgcgcacttccgcccggccttccaccggtccaggtctgcccctccgcagcgatagttca c.-121
. . . . . . g.5329
cgctctcggcggggctgtaccggaagttgcctctacttccgcccgttccggggcggggct c.-61
. . . . . . g.5389
tacttcgcagcgactacttgccgcacttccgggctgccaggcagctgctgtggctccagg c.-1
. . | 02 . . . . g.5531
ATGATGGAGACAGAGCGACTTG | TGCTACCCCCTCCAGATCCCCTGGACCTACCCCTTCGG c.60
M M E T E R L V | L P P P D P L D L P L R p.20
. . . . . . g.5591
GCCGTGGAGCTCGGATGCACGGGGCACTGGGAGCTGCTGAACTTGCCTGGAGCTCCAGAG c.120
A V E L G C T G H W E L L N L P G A P E p.40
| 03 . . . . . . g.6260
AGTAGC | CTTCCCCATGGCCTCCCTCCTTGTGCCCCAGATCTGCAGCAAGAAGCAGAACAG c.180
S S | L P H G L P P C A P D L Q Q E A E Q p.60
. . . . . | 04 . g.6420
TTGTTTCTGTCATCCCCAGCCTGGCTGCCTCTGCATGGTGTGGAGCACTCAGCCCG | AAAA c.240
L F L S S P A W L P L H G V E H S A R | K p.80
. . . . . . g.6480
TGGCAGAGGAAGACGGATCCCTGGTCTCTTTTGGCTGTCCTGGGAGCCCCAGTCCCATCC c.300
W Q R K T D P W S L L A V L G A P V P S p.100
. . . . . | 05 . g.6634
GACCTACAGGCCCAAAGACACCCAACCACAGGCCAGATACTGGGTTACAAAGAG | GTCTTG c.360
D L Q A Q R H P T T G Q I L G Y K E | V L p.120
. . . . . . g.6694
CTGGAGAACACAAATCTCTCGGCTACAACCTCCTTGTCTCTTCGCCGGCCTCCAGGGCCA c.420
L E N T N L S A T T S L S L R R P P G P p.140
. . . . | 06 . g.6873
GCCTCCCAGTCCTTATGGGGAAATCCAACTCAGTATCCCTTCTGGCCAG | GGGGGATGGAT c.480
A S Q S L W G N P T Q Y P F W P G | G M D p.160
. . . . . . g.6933
GAACCCACCATAACAGATCTGAACACACGGGAGGAGGCTGAGGAGGAGATAGACTTTGAG c.540
E P T I T D L N T R E E A E E E I D F E p.180
| 07 . . . . . | 08 g.7394
AAAG | ATCTTCTTACTATTCCACCTGGTTTCAAGAAAGGCATGGACTTTGCACCAAAAG | AT c.600
K D | L L T I P P G F K K G M D F A P K D | p.200
. . . . . . g.7454
TGTCCAACTCCAGCTCCTGGACTACTAAGCCTTAGCTGTATGTTGGAGCCTCTGGATTTG c.660
C P T P A P G L L S L S C M L E P L D L p.220
. . . . . . g.7514
GGTGGGGGTGACGAGGATGAGAATGAGGCAGTGGGACAGCCAGGAGGTCCCAGAGGGGAC c.720
G G G D E D E N E A V G Q P G G P R G D p.240
. . . . . . g.7574
ACTGTTTCAGCCTCTCCCTGCAGTGCTCCCCTGGCCCGAGCAAGCAGCTTGGAAGACCTA c.780
T V S A S P C S A P L A R A S S L E D L p.260
| 09 . . . . . g.7794
GTGTTGAAG | GAAGCGTCCACAGCTGTATCCACCCCAGAGGCCCCAGAGCCTCCATCTCAG c.840
V L K | E A S T A V S T P E A P E P P S Q p.280
. . . . . . g.7854
GAGCAGTGGGCCATCCCTGTGGACGCCACCTCCCCTGTTGGTGATTTCTATCGCCTCATT c.900
E Q W A I P V D A T S P V G D F Y R L I p.300
. | 10 . . . . g.8147
CCCCAGCCAGCCTTCCAG | TGGGCATTTGAGCCAGATGTGTTTCAGAAACAGGCCATCCTG c.960
P Q P A F Q | W A F E P D V F Q K Q A I L p.320
. . . . . . g.8207
CACTTGGAACGGCATGACTCTGTCTTTGTCGCAGCTCACACATCTGCAGGAAAAACAGTT c.1020
H L E R H D S V F V A A H T S A G K T V p.340
. . . . | 11 . . g.8651
GTGGCTGAATATGCCATTGCCCTGGCCCAGAAACACATGACACG | CACCATCTACACTTCG c.1080
V A E Y A I A L A Q K H M T R | T I Y T S p.360
. . . . . . g.8711
CCCATCAAGGCCCTGAGCAACCAGAAGTTCCGGGACTTCCGAAACACATTCGGGGATGTG c.1140
P I K A L S N Q K F R D F R N T F G D V p.380
. . . . . . g.8771
GGGCTGCTCACCGGGGATGTACAGCTGCATCCGGAGGCCTCCTGCCTCATCATGACCACA c.1200
G L L T G D V Q L H P E A S C L I M T T p.400
. | 12 . . . . . g.8959
GAGATCCTTCG | CTCCATGCTGTACAGTGGCTCAGATGTTATTCGGGACCTGGAGTGGGTC c.1260
E I L R | S M L Y S G S D V I R D L E W V p.420
. . . | 13 . . . g.9205
ATCTTTGATGAGGTTCACTATATCAACGATGTCGAG | CGTGGGGTCGTGTGGGAGGAGGTG c.1320
I F D E V H Y I N D V E | R G V V W E E V p.440
. . . . . . g.9265
CTTATCATGCTACCTGACCACGTTTCTATCATCCTTCTGAGTGCCACCGTCCCCAACGCC c.1380
L I M L P D H V S I I L L S A T V P N A p.460
. . | 14 . . . . g.9646
CTTGAGTTTGCTGACTGGATTGG | GCGGCTGAAGCGTCGTCAGATCTATGTGATTAGCACT c.1440
L E F A D W I G | R L K R R Q I Y V I S T p.480
. . . . . . g.9706
GTAACCCGCCCCGTGCCCCTGGAGCACTATCTTTTCACAGGGAACAGCTCCAAGACCCAG c.1500
V T R P V P L E H Y L F T G N S S K T Q p.500
. . . . . | 15 . g.9843
GGGGAGCTCTTTTTGTTGCTGGACTCCCGAGGAGCCTTCCATACAAAAGG | GTACTATGCA c.1560
G E L F L L L D S R G A F H T K G | Y Y A p.520
. . . . . . g.9903
GCTGTGGAGGCCAAGAAGGAGAGAATGAGCAAACACGCCCAGACCTTTGGGGCCAAGCAG c.1620
A V E A K K E R M S K H A Q T F G A K Q p.540
. . | 16. . . . g.10142
CCCACACATCAGGGGGGCCCTGCACAG | GACCGCGGAGTGTACCTGTCCCTCCTGGCCTCC c.1680
P T H Q G G P A Q | D R G V Y L S L L A S p.560
. . . . . . g.10202
CTCCGCACACGTGCCCAGTTGCCCGTGGTGGTGTTCACCTTCTCCCGGGGCCGCTGTGAT c.1740
L R T R A Q L P V V V F T F S R G R C D p.580
. . . . . . g.10262
GAGCAGGCCTCAGGCCTCACCTCCCTTGACCTCACCACCAGTTCGGAGAAGAGCGAGATC c.1800
E Q A S G L T S L D L T T S S E K S E I p.600
. . . . . . g.10322
CACCTCTTCCTGCAGCGCTGCCTTGCTCGCCTCCGTGGCTCTGACCGCCAGCTGCCCCAG c.1860
H L F L Q R C L A R L R G S D R Q L P Q p.620
| 17 . . . . . . g.10488
| GTCCTGCACATGTCAGAGCTCCTGAATCGCGGCCTGGGTGTGCACCATAGCGGCATCCTG c.1920
| V L H M S E L L N R G L G V H H S G I L p.640
. . . . . | 18 . g.11988
CCCATCCTCAAGGAGATCGTGGAGATGCTCTTCAGCCGTGGCCTGGTCAAG | GTCTTGTTT c.1980
P I L K E I V E M L F S R G L V K | V L F p.660
. . . . . . g.12048
GCCACAGAGACCTTTGCCATGGGAGTAAACATGCCTGCTCGTACAGTAGTGTTTGACTCC c.2040
A T E T F A M G V N M P A R T V V F D S p.680
. . . . . . g.12108
ATGCGCAAACACGATGGCTCCACCTTCCGGGACCTGCTCCCTGGGGAGTATGTGCAGATG c.2100
M R K H D G S T F R D L L P G E Y V Q M p.700
. . . . . . g.12168
GCAGGCCGGGCAGGGCGGAGGGGCCTGGACCCCACAGGCACCGTTATCCTGCTCTGCAAG c.2160
A G R A G R R G L D P T G T V I L L C K p.720
. . . . | 19 . . g.12923
GGCCGAGTGCCCGAGATGGCAGACCTGCACCGCATGATGATG | GGGAAGCCGTCCCAGCTG c.2220
G R V P E M A D L H R M M M | G K P S Q L p.740
. . . . . . g.12983
CAGTCCCAGTTCCGCCTCACGTACACTATGATCCTCAACTTGCTGCGAGTGGATGCCCTC c.2280
Q S Q F R L T Y T M I L N L L R V D A L p.760
. . . . . . g.13043
AGGGTGGAGGACATGATGAAGAGGAGCTTCTCTGAGTTTCCCTCCCGCAAAGACAGCAAG c.2340
R V E D M M K R S F S E F P S R K D S K p.780
| 20 . . . . . . g.13260
| GCCCATGAACAGGCCCTGGCTGAACTGACCAAGAGGCTGGGAGCTTTGGAGGAGCCTGAC c.2400
| A H E Q A L A E L T K R L G A L E E P D p.800
. . . . . . g.13320
ATGACTGGCCAACTGGTCGACCTGCCTGAATATTACAGCTGGGGGGAGGAACTGACAGAG c.2460
M T G Q L V D L P E Y Y S W G E E L T E p.820
. | 21 . . . . g.13511
ACCCAGCACATGATCCAG | CGACGCATCATGGAGTCTGTGAACGGGCTGAAGTCTCTCTCA c.2520
T Q H M I Q | R R I M E S V N G L K S L S p.840
. . . . . . g.13571
GCAGGAAGGGTGGTGGTTGTGAAGAATCAGGAGCATCACAACGCATTGGGAGTGATCCTA c.2580
A G R V V V V K N Q E H H N A L G V I L p.860
| 22 . . . . . . g.13968
CAG | GTCTCCTCGAACTCCACCAGCAGAGTATTCACAACCCTGGTCTTGTGTGATAAGCCC c.2640
Q | V S S N S T S R V F T T L V L C D K P p.880
. . . . . . g.14028
TTGTCCCAGGACCCACAGGACAGGGGGCCAGCCACTGCAGAGGTGCCCTATCCAGATGAC c.2700
L S Q D P Q D R G P A T A E V P Y P D D p.900
. . . | 23 . . . g.14181
CTCGTGGGATTCAAGCTGTTCCTGCCTGAAG | GGCCTTGTGACCACACCGTGGTCAAGCTC c.2760
L V G F K L F L P E G | P C D H T V V K L p.920
. . . . . . g.14241
CAGCCAGGAGATATGGCTGCCATCACCACCAAGGTGCTCCGGGTGAATGGGGAGAAGATC c.2820
Q P G D M A A I T T K V L R V N G E K I p.940
. . . | 24 . . g.14546
TTGGAGGACTTCAGCAAGAGGCAGCAGCCAAAATTCAA | GAAGGATCCTCCCCTTGCAGCC c.2880
L E D F S K R Q Q P K F K | K D P P L A A p.960
. . . . . . g.14606
GTGACCACTGCTGTCCAGGAACTGCTGCGTCTGGCTCAGGCCCACCCAGCCGGACCTCCC c.2940
V T T A V Q E L L R L A Q A H P A G P P p.980
. . . . . . g.14666
ACCCTCGACCCTGTCAATGACCTGCAGCTCAAAGATATGTCAGTTGTAGAGGGTGGGCTC c.3000
T L D P V N D L Q L K D M S V V E G G L p.1000
. . . . . . g.14726
CGGGCCCGGAAGCTGGAGGAGCTGATCCAGGGGGCTCAGTGTGTACACAGCCCCCGTTTT c.3060
R A R K L E E L I Q G A Q C V H S P R F p.1020
| 25 . . . . . g.14933
CCTGCCCAG | TACCTGAAGCTGCGGGAGCGAATGCAGATACAGAAGGAGATGGAGCGGCTG c.3120
P A Q | Y L K L R E R M Q I Q K E M E R L p.1040
. . . . . . g.14993
CGCTTCCTACTGTCGGATCAGTCATTGCTGCTGCTTCCTGAGTACCATCAGCGAGTAGAG c.3180
R F L L S D Q S L L L L P E Y H Q R V E p.1060
| 26 . . . . . . g.15127
| GTGCTCCGAACCCTGGGTTATGTGGACGAGGCGGGCACTGTGAAGCTGGCAGGGCGGGTG c.3240
| V L R T L G Y V D E A G T V K L A G R V p.1080
. . . . . . g.15187
GCTTGTGCCATGAGCAGCCATGAGTTGCTCCTCACTGAGCTCATGTTTGACAATGCACTG c.3300
A C A M S S H E L L L T E L M F D N A L p.1100
. . . . . . g.15247
AGCACCCTGCGGCCTGAGGAGATTGCTGCCTTGCTCTCTGGCCTGGTCTGCCAGAGCCCT c.3360
S T L R P E E I A A L L S G L V C Q S P p.1120
. . . | 27 . . g.15497
GGGGACGCTGGGGATCAGCTCCCAAACACCCTCAAGCAG | GGAATAGAACGTGTCCGGGCT c.3420
G D A G D Q L P N T L K Q | G I E R V R A p.1140
. . . . . . g.15557
GTGGCCAAGCGGATTGGTGAGGTCCAGGTGGCTTGTGGCCTGAACCAGACGGTGGAGGAA c.3480
V A K R I G E V Q V A C G L N Q T V E E p.1160
. . . . . . g.15617
TTTGTGGGGGAGCTGAATTTTGGGCTGGTTGAGGTTGTATATGAGTGGGCCCGGGGCATG c.3540
F V G E L N F G L V E V V Y E W A R G M p.1180
| 28 . . . . . . g.15771
| CCCTTCTCCGAGTTGGCAGGGCTCTCAGGGACCCCTGAGGGCCTGGTGGTCCGCTGCATT c.3600
| P F S E L A G L S G T P E G L V V R C I p.1200
. . . . . . g.15831
CAGCGCCTGGCTGAGATGTGTCGCTCACTGCGGGGGGCAGCCCGCCTGGTAGGAGAGCCT c.3660
Q R L A E M C R S L R G A A R L V G E P p.1220
. . . . . . g.15891
GTGCTGGGTGCCAAGATGGAGACAGCGGCTACCTTGCTACGGCGGGACATCGTATTTGCG c.3720
V L G A K M E T A A T L L R R D I V F A p.1240
. . g.15912
GCCAGCCTCTACACCCAGTGA c.3741
A S L Y T Q X p.1246
. . . . g.15952
atgccccatgtaaaaacatgatgataaaacagcaaagcac c.*40
(downstream sequence)
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