(used for variant description)
(last modified May 9, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_015260.2 in the SIN3B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering SIN3B transcript NM_015260.2.
(upstream sequence)
. . g.5023
ggggcgcagctccgacttcggac c.-1
. . . . . . g.5083
ATGGCGCACGCTGGCGGTGGCAGCGGTGGCAGCGGTGCCGGCGGCCCCGCGGGCCGGGGG c.60
M A H A G G G S G G S G A G G P A G R G p.20
. . . . . . g.5143
CTGAGCGGCGCCCGCTGGGGTCGCTCGGGCTCCGCAGGCCACGAGAAGCTGCCGGTGCAC c.120
L S G A R W G R S G S A G H E K L P V H p.40
| 02 . . . . . . g.5453
| GTAGAAGACGCCCTCACCTATCTGGACCAGGTGAAGATCCGCTTTGGCAGCGACCCTGCC c.180
| V E D A L T Y L D Q V K I R F G S D P A p.60
. . . . | 03. . g.7109
ACCTACAACGGCTTCCTGGAGATCATGAAGGAGTTCAAAAGCCAGAG | CATCGATACTCCT c.240
T Y N G F L E I M K E F K S Q S | I D T P p.80
. . . . . . g.7169
GGAGTCATCAGACGTGTCTCGCAGCTCTTCCACGAGCACCCTGACCTCATTGTTGGATTC c.300
G V I R R V S Q L F H E H P D L I V G F p.100
. . . . . . g.7229
AACGCTTTTCTTCCCCTCGGATATAGAATAGACATTCCCAAGAATGGCAAGTTAAACATA c.360
N A F L P L G Y R I D I P K N G K L N I p.120
. . | 04 . . . . g.17409
CAGTCGCCTCTGACAAGCCAG | GAGAATTCGCACAACCACGGGGACGGTGCAGAGGACTTC c.420
Q S P L T S Q | E N S H N H G D G A E D F p.140
. . . . . . g.17469
AAGCAGCAGGTGCCGTATAAAGAGGACAAACCCCAGGTGCCCCTGGAGTCCGATTCCGTG c.480
K Q Q V P Y K E D K P Q V P L E S D S V p.160
. . . . . . g.17529
GAATTCAACAACGCCATCAGCTATGTGAATAAGATTAAAACCCGCTTCCTAGACCACCCA c.540
E F N N A I S Y V N K I K T R F L D H P p.180
. . . . | 05 . . g.22590
GAAATCTACAGGTCATTCCTGGAGATCCTGCACACGTACCAG | AAGGAGCAGCTGAACACG c.600
E I Y R S F L E I L H T Y Q | K E Q L N T p.200
. . . . . . g.22650
AGGGGCCGGCCATTCCGAGGCATGTCTGAAGAGGAGGTGTTCACCGAGGTGGCCAACCTC c.660
R G R P F R G M S E E E V F T E V A N L p.220
. . . . . . g.22710
TTCCGGGGCCAGGAGGACCTGCTCTCAGAGTTTGGACAGTTCCTGCCCGAAGCCAAGCGG c.720
F R G Q E D L L S E F G Q F L P E A K R p.240
| 06 . . . . . . g.27068
TCTCTG | TTCACAGGAAACGGGCCGTGCGAGATGCACAGCGTGCAGAAGAACGAGCACGAC c.780
S L | F T G N G P C E M H S V Q K N E H D p.260
. . . . . . g.27128
AAGACCCCGGAGCACAGCAGGAAGCGCTCCCGGCCCTCGCTCCTCCGCCCCGTGTCTGCA c.840
K T P E H S R K R S R P S L L R P V S A p.280
| 07 . . . . . g.28722
CCCGCCAAG | AAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGG c.900
P A K | K K M K L R G T K D L S I A A V G p.300
. . . | 08 . . g.29766
AAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAG | GTCCGCCGGGTGCTGAAGAGC c.960
K Y G T L Q E F S F F D K | V R R V L K S p.320
. . . . . . g.29826
CAGGAGGTGTATGAAAACTTCCTCCGCTGCATCGCACTCTTCAACCAGGAGCTGGTGTCT c.1020
Q E V Y E N F L R C I A L F N Q E L V S p.340
. . . | 09 . . g.37976
GGCTCTGAGCTCCTGCAGCTCGTCAGCCCATTTCTGGG | GAAATTTCCAGAACTCTTTGCA c.1080
G S E L L Q L V S P F L G | K F P E L F A p.360
. . . . . . g.38036
CAGTTCAAGTCCTTCCTGGGGGTAAAAGAGCTGTCCTTCGCGCCACCCATGAGCGACAGA c.1140
Q F K S F L G V K E L S F A P P M S D R p.380
. . . . . . g.38096
TCCGGGGACGGGATAAGCCGGGAAATTGATTATGCATCCTGCAAGCGCATAGGATCCAGC c.1200
S G D G I S R E I D Y A S C K R I G S S p.400
. . . . . . g.38156
TACCGGGCACTCCCCAAAACCTACCAGCAGCCCAAGTGCAGTGGGAGGACAGCCATCTGC c.1260
Y R A L P K T Y Q Q P K C S G R T A I C p.420
| 10 . . . . . . g.38540
AAGGAG | CTTGACCATTGGACACTTCTCCAGGGTTCGTGGACAGACGATTACTGCATGTCC c.1320
K E | L D H W T L L Q G S W T D D Y C M S p.440
. . . . | 11 . . g.39300
AAGTTCAAGAATACCTGCTGGATTCCAGGATATAGTGCAGGG | GTACTGAACGACACCTGG c.1380
K F K N T C W I P G Y S A G | V L N D T W p.460
. . . . . . g.39360
GTCTCCTTCCCTTCCTGGTCTGAGGACTCCACGTTCGTCAGCTCCAAGAAGACACCGTAC c.1440
V S F P S W S E D S T F V S S K K T P Y p.480
. . . | 12 . . g.41033
GAGGAGCAGCTTCACCGCTGTGAGGACGAGCGCTTCGAG | TTAGACGTTGTCCTGGAGACG c.1500
E E Q L H R C E D E R F E | L D V V L E T p.500
. . . . . . g.41093
AACCTGGCCACAATCCGTGTGTTGGAAAGTGTGCAGAAGAAGCTATCTCGGATGGCGCCG c.1560
N L A T I R V L E S V Q K K L S R M A P p.520
. . . . . . g.41153
GAAGACCAGGAGAAGTTCCGGCTGGACGACTCCCTGGGAGGCACGTCGGAGGTGATCCAG c.1620
E D Q E K F R L D D S L G G T S E V I Q p.540
. . . . . . g.41213
CGCCGTGCCATTTATCGCATCTATGGCGACAAGGCCCCGGAGATCATCGAGAGCCTCAAG c.1680
R R A I Y R I Y G D K A P E I I E S L K p.560
. . . | 13 . . g.41997
AAGAACCCTGTCACCGCTGTCCCCGTTGTCCTGAAAAG | ACTGAAGGCCAAGGAAGAGGAG c.1740
K N P V T A V P V V L K R | L K A K E E E p.580
. . . . . . g.42057
TGGCGGGAGGCCCAGCAGGGCTTCAACAAGATCTGGCGGGAGCAGTATGAGAAGGCGTAC c.1800
W R E A Q Q G F N K I W R E Q Y E K A Y p.600
. . . . . . g.42117
CTCAAGTCCCTTGACCACCAGGCTGTGAACTTCAAGCAGAACGACACCAAGGCCCTGCGC c.1860
L K S L D H Q A V N F K Q N D T K A L R p.620
. . . . | 14 . . g.45080
TCCAAGAGCTTGCTCAACGAGATCGAGAGCGTCTACGACGAG | CACCAGGAGCAGCACTCG c.1920
S K S L L N E I E S V Y D E | H Q E Q H S p.640
. . . . . . g.45140
GAGGGCCGCAGTGCCCCCTCTAGCGAGCCGCACCTCATCTTTGTGTACGAGGACCGGCAG c.1980
E G R S A P S S E P H L I F V Y E D R Q p.660
. . . . . . g.45200
ATCCTGGAGGACGCAGCAGCGCTCATCAGCTACTACGTGAAGCGGCAGCCGGCCATCCAG c.2040
I L E D A A A L I S Y Y V K R Q P A I Q p.680
. . . . . . g.45260
AAGGAGGACCAGGGCACCATCCACCAGCTGCTGCACCAGTTCGTGCCCAGCCTCTTCTTC c.2100
K E D Q G T I H Q L L H Q F V P S L F F p.700
. . . . . . g.45320
TCTCAGCAGCTGGACCTGGGCGCCTCCGAGGAGTCAGCTGATGAGGACCGGGACAGCCCC c.2160
S Q Q L D L G A S E E S A D E D R D S P p.720
. . . . . . g.45380
CAGGGGCAGACCACAGACCCCAGTGAGCGGAAGAAGCCGGCGCCAGGACCCCACAGTAGC c.2220
Q G Q T T D P S E R K K P A P G P H S S p.740
. . . . . . g.45440
CCCCCAGAGGAGAAGGGGGCCTTCGGGGATGCCCCGGCCACTGAGCAGCCACCCCTGCCG c.2280
P P E E K G A F G D A P A T E Q P P L P p.760
. . . . . . g.45500
CCCCCAGCCCCGCACAAGCCCCTGGACGATGTCTACAGCCTATTTTTTGCCAACAACAAC c.2340
P P A P H K P L D D V Y S L F F A N N N p.780
. . . . . . g.45560
TGGTACTTCTTCCTGCGCCTGCACCAGACCCTGTGCTCCAGGCTGCTGAAGATCTACCGC c.2400
W Y F F L R L H Q T L C S R L L K I Y R p.800
. . . . . . g.45620
CAGGCGCAGAAGCAGCTTCTGGAGTATCGGACCGAGAAGGAGCGGGAGAAGCTGCTGTGT c.2460
Q A Q K Q L L E Y R T E K E R E K L L C p.820
. . . . . | 15 g.46833
GAGGGCCGCAGGGAGAAGGGCAGCGACCCCGCCATGGAGCTGCGGCTGAAGCAGCCCA | GT c.2520
E G R R E K G S D P A M E L R L K Q P S | p.840
. . . . . . g.46893
GAAGTGGAGCTGGAGGAGTACTACCCGGCCTTCCTGGACATGGTGCGGAGCCTGCTGGAG c.2580
E V E L E E Y Y P A F L D M V R S L L E p.860
. . . . . . g.46953
GGCAGCATCGACCCCACGCAGTACGAGGACACCCTACGCGAGATGTTCACCATCCATGCC c.2640
G S I D P T Q Y E D T L R E M F T I H A p.880
. . . . | 16 . g.51669
TACGTGGGCTTCACCATGGACAAGCTGGTGCAGAACATTGCGCGGCAG | CTGCACCACCTC c.2700
Y V G F T M D K L V Q N I A R Q | L H H L p.900
. . . . . . g.51729
GTGAGCGATGACGTCTGCCTGAAGGTGGTGGAGCTCTACCTGAACGAGAAGAAGCGGGGT c.2760
V S D D V C L K V V E L Y L N E K K R G p.920
. . . . . . g.51789
GCCGCTGGTGGGAACCTGTCCTCCCGCTGCGTCCGCGCTGCTAGGGAGACCAGCTACCAG c.2820
A A G G N L S S R C V R A A R E T S Y Q p.940
. . . . | 17 . . g.52106
TGGAAGGCTGAGCGCTGCATGGCCGACGAGAACTGCTTCAAG | GTGATGTTCCTGCAGCGC c.2880
W K A E R C M A D E N C F K | V M F L Q R p.960
. . . . . . g.52166
AAAGGGCAGGTGATCATGACCATCGAGCTCCTGGACACCGAGGAGGCCCAGACGGAGGAC c.2940
K G Q V I M T I E L L D T E E A Q T E D p.980
. | 18 . . . . . g.53192
CCTGTGGAGGTCCAG | CACCTGGCTCGGTACGTGGAGCAGTATGTGGGGACCGAGGGCGCG c.3000
P V E V Q | H L A R Y V E Q Y V G T E G A p.1000
. . . . . | 19 . g.53795
TCCAGCTCGCCCACTGAGGGCTTCCTCCTGAAACCTGTGTTCCTGCAGAG | GAACCTCAAG c.3060
S S S P T E G F L L K P V F L Q R | N L K p.1020
. . . . . . g.53855
AAGTTCCGCCGCCGGTGGCAGAGCGAGCAGGCGCGGGCCCTGCGCGGTGAGGCCAGGAGC c.3120
K F R R R W Q S E Q A R A L R G E A R S p.1040
. . . . . . g.53915
TCCTGGAAGCGGCTGGTGGGCGTGGAGAGCGCCTGCGACGTGGACTGCCGCTTCAAGCTC c.3180
S W K R L V G V E S A C D V D C R F K L p.1060
. . . . . . g.53975
AGCACTCACAAGATGGTGTTCATCGTGAACTCCGAGGACTACATGTACCGTCGCGGGACC c.3240
S T H K M V F I V N S E D Y M Y R R G T p.1080
. | 20 . . . . g.54141
CTCTGCCGGGCCAAGCAG | GTGCAGCCCCTGGTCCTGCTCCGCCACCACCAGCACTTTGAG c.3300
L C R A K Q | V Q P L V L L R H H Q H F E p.1100
. . . . . . g.54201
GAGTGGCACAGCCGCTGGCTGGAGGACAATGTGACGGTGGAGGCGGCTAGCCTGGTGCAG c.3360
E W H S R W L E D N V T V E A A S L V Q p.1120
. . . . . . g.54261
GACTGGCTGATGGGTGAGGAGGACGAGGACATGGTACCCTGCAAGACGCTGTGTGAGACA c.3420
D W L M G E E D E D M V P C K T L C E T p.1140
. . . . . . g.54321
GTGCACGTGCACGGCCTGCCCGTGACCCGCTACCGCGTGCAGTACAGCCGCCGCCCGGCC c.3480
V H V H G L P V T R Y R V Q Y S R R P A p.1160
g.54330
TCGCCCTGA c.3489
S P X p.1162
. . . . . . g.54390
cccgccctcatgggcaccgggcaggcgcctcacagagcacagacgtgccctcggccttgg c.*60
. . . . . . g.54450
tcgtgtcggggccgttttcttgaacgacgtgagaggcatctcccagcccctctgctgccg c.*120
. . . . . . g.54510
gacagcgcactccagggcaggacgccgcccccgtggctcccggtctcctgtgggcctgct c.*180
. . . . . . g.54570
gtgtgccaaacctgagctacctgcacccgagccctggggctcagccccaccacaggggcg c.*240
. . . . . . g.54630
ggtggacgtgctggccgaggaacaagcaatcatgtttgcgtccccgtccgtcacatgtgc c.*300
. . . . . . g.54690
caaatccctggcaggcagatggctcctgccccatattcttgccgtgtcttggaaaagtca c.*360
. . . . . . g.54750
caggtgacagccctcctgaggcccacactttggagggggtccatgtccaagagaccctga c.*420
. . . . . . g.54810
caaggaaggagttgagccctgggtaggcttgcttgaaaagtgagtccttccagaatattc c.*480
. . . . . . g.54870
tcagagctgccagaaacatcatctgagggtttgggcatcagctctgcctggctggtgttc c.*540
. . . . . . g.54930
aggccctcagtcactttggaagtgagaagaacccttcagccaaacctttgggatcccatt c.*600
. . . . . . g.54990
ttgaagtccagagctggagcaggcgggcagtgccctgggagaccccgctctggataagac c.*660
. . . . . . g.55050
acccaaccccaactccagcagctggactctgggcccacaaggggagggaccccagccagt c.*720
. . . . . . g.55110
attccctcagagccggcacgaccctgctgtggggcggcgggcccagtcgtgttcctgcag c.*780
. . . . . . g.55170
tgggcaccctaggcgtatgtgtatacacgcacagatatttattcctttcgcttttagtgg c.*840
. . . . . . g.55230
ttgttatttctgtagcagccaagtcctgcggctccctggggctgagatctccctttgtgg c.*900
. . . . . . g.55290
aactccgagagccgccctgacagtcccagccgccacccaaggagccccatccgcccaccc c.*960
. . . . . . g.55350
accctgggacccacgcggccactccagggatcattgttgtccttttgtgaggggctgagg c.*1020
. . . . . . g.55410
cgactgtcccatggaggcatccaaggctttctgtgccaagaatcccaagtgactggggct c.*1080
. . . . . . g.55470
ggggaccacttctccaggcctctctccccgaccatgagagcccctggccctggcccctgc c.*1140
. . . . . . g.55530
acaccagtaggcccagaataaccgccacccttgccatcctgcaacagctggactcaagtt c.*1200
. . . . . . g.55590
tccaggaagtggagatgtgtttctagaagtttcctgtggaacctggaggctcctgatgcc c.*1260
. . . . . . g.55650
tttgactccaggctgggcgattccgatgctgacccgtcctcctgggctccccacccccgc c.*1320
. . . . . . g.55710
tccccaagtgtcacacaggcactttgtacacatcctggttttctaagaagggaacttgcc c.*1380
. . . . . . g.55770
atcaagattcctgtaccaggcccacggccgtctcgggcagagccacctgggccccgggtg c.*1440
. . . . . . g.55830
cagccggagaccccgccgagcccctcctcccagtattcccatccccgcatgcttctaggg c.*1500
. . . . . . g.55890
agcgcctcttttccgttcttgaggaatttctgttctggggcttgtccttcctttgcagct c.*1560
. . . . . . g.55950
gttttgaatgtagttttccttttctatttatttgcacattaaagttaataattgaatatt c.*1620
g.55956
gacatc c.*1626
(downstream sequence)
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