(used for variant description)
(last modified May 24, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_021962.3 in the ABR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011987.1, covering ABR transcript NM_021962.3.
(upstream sequence)
. . g.12475
cccgcgctcctcccggggacctggt c.-121
. . . . . . g.12535
tcccggcctcctcgcccctccgcgctcgcaacttcggcctcccccggctcccgcccgctc c.-61
. . . . . . g.12595
tccctcctttgttgcgcgatgagggtcgggtttcggatctgaccgagccgccgccgcggg c.-1
. . . . . . g.12655
ATGGAGCCGCTCAGCCACCGGGGCCTGCCGCGCCTGTCCTGGATCGACACCCTCTACAGC c.60
M E P L S H R G L P R L S W I D T L Y S p.20
| 02 . . . . . . g.66973
A | ACTTCAGCTACGGGACGGACGAGTACGACGGAGAGGGGAATGAGGAGCAGAAGGGGCCC c.120
N | F S Y G T D E Y D G E G N E E Q K G P p.40
. . . . . . g.67033
CCGGAGGGCTCAGAGACCATGCCGTACATCGATGAGTCGCCCACCATGTCCCCGCAGCTC c.180
P E G S E T M P Y I D E S P T M S P Q L p.60
. . . . . . g.67093
AGCGCCCGCAGCCAGGGCGGGGGGGATGGCGTCTCCCCGACTCCACCTGAGGGACTGGCT c.240
S A R S Q G G G D G V S P T P P E G L A p.80
| 03 . . . . . . g.91695
CCTGGG | GTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTG c.300
P G | V E A G K G L E M R K L V L S G F L p.100
. . . . | 04 . . g.100541
GCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTG | CCCATGAAACCCCTG c.360
A S E E I Y I N Q L E A L L L | P M K P L p.120
. . . . . . g.100601
AAGGCCACCGCCACCACCTCCCAGCCCGTGCTCACCATCCAGCAGATCGAGACCATCTTC c.420
K A T A T T S Q P V L T I Q Q I E T I F p.140
. . . . . . g.100661
TACAAGATCCAGGACATCTATGAGATCCACAAGGAGTTCTATGACAACCTGTGCCCCAAG c.480
Y K I Q D I Y E I H K E F Y D N L C P K p.160
. . . . . | 05 . g.108758
GTGCAACAGTGGGACAGCCAGGTCACCATGGGCCACCTCTTCCAGAAGCTG | GCCAGCCAG c.540
V Q Q W D S Q V T M G H L F Q K L | A S Q p.180
. . . . . . g.108818
CTCGGTGTGTACAAAGCGTTTGTCGATAACTATAAAGTCGCTCTGGAGACAGCTGAGAAG c.600
L G V Y K A F V D N Y K V A L E T A E K p.200
. . . | 06 . . g.113007
TGCAGCCAGTCCAACAACCAGTTCCAGAAGATCTCAGAG | GAACTCAAAGTGAAAGGTCCC c.660
C S Q S N N Q F Q K I S E | E L K V K G P p.220
. . . . | 07 . . g.118719
AAGGACTCCAAGGACAGCCACACGTCTGTCACCATGGAAG | CTCTGCTCTACAAGCCCATT c.720
K D S K D S H T S V T M E A | L L Y K P I p.240
. . . | 08 . . . g.119649
GACCGGGTCACTCGGAGCACCCTAGTCCTACAC | GACCTGCTGAAGCACACACCTGTGGAC c.780
D R V T R S T L V L H | D L L K H T P V D p.260
. . . . . . g.119709
CACCCCGACTACCCGCTGCTGCAGGATGCCCTCCGCATCTCCCAGAACTTCCTGTCCAGC c.840
H P D Y P L L Q D A L R I S Q N F L S S p.280
. . . . . | 09 . g.122292
ATCAACGAGGACATCGACCCCCGCCGGACTGCAGTGACAACGCCCAAGGGGGAG | ACGCGA c.900
I N E D I D P R R T A V T T P K G E | T R p.300
. . . . . . g.122352
CAGCTGGTGAAGGACGGCTTCCTGGTGGAAGTGTCAGAGAGCTCCCGGAAGCTGCGGCAC c.960
Q L V K D G F L V E V S E S S R K L R H p.320
. . . . . | 10 . g.125138
GTCTTCCTCTTTACAGATGTCCTACTGTGTGCCAAGCTGAAGAAGACCTCTGCAGG | GAAG c.1020
V F L F T D V L L C A K L K K T S A G | K p.340
. . . . . . g.125198
CACCAGCAGTATGACTGTAAGTGGTACATCCCCCTGGCCGACCTGGTGTTTCCATCCCCC c.1080
H Q Q Y D C K W Y I P L A D L V F P S P p.360
. . . . . . g.125258
GAGGAGTCTGAGGCCAGCCCCCAGGTGCACCCCTTCCCAGACCATGAGCTGGAGGACATG c.1140
E E S E A S P Q V H P F P D H E L E D M p.380
. . . . | 11 . . g.133527
AAGATGAAGATCTCTGCCCTCAAGAGTGAAATCCAGAAGGAG | AAAGCCAACAAAGGCCAG c.1200
K M K I S A L K S E I Q K E | K A N K G Q p.400
. . . . . . g.133587
AGCCGGGCCATCGAGCGCCTGAAGAAGAAGATGTTTGAGAATGAGTTCCTGCTGCTGCTC c.1260
S R A I E R L K K K M F E N E F L L L L p.420
. . . . | 12 . . g.134346
AACTCCCCCACAATCCCGTTCAGGATCCACAATCGGAATGGAAAG | AGTTACCTGTTCCTA c.1320
N S P T I P F R I H N R N G K | S Y L F L p.440
. . . . . . g.134406
CTGTCCTCGGACTACGAGAGGTCAGAGTGGAGAGAAGCAATTCAGAAACTACAGAAGAAG c.1380
L S S D Y E R S E W R E A I Q K L Q K K p.460
| 13 . . . . . . g.135333
G | ATCTCCAGGCCTTTGTCCTGAGCTCAGTGGAGCTCCAGGTGCTCACAGGATCCTGTTTC c.1440
D | L Q A F V L S S V E L Q V L T G S C F p.480
. . . . | 14 . . g.136281
AAGCTTAGGACTGTACACAACATTCCTGTCACCAGCAATAAAGACG | ACGATGAGTCTCCA c.1500
K L R T V H N I P V T S N K D D | D E S P p.500
. . . . . . g.136341
GGACTCTATGGCTTCCTTCATGTCATCGTCCACTCTGCCAAGGGATTTAAGCAATCAGCC c.1560
G L Y G F L H V I V H S A K G F K Q S A p.520
| 15 . . . . . . g.141801
A | ACCTGTACTGTACCCTGGAGGTGGATTCCTTCGGCTATTTTGTCAGCAAAGCCAAAACC c.1620
N | L Y C T L E V D S F G Y F V S K A K T p.540
. . . | 16 . . g.142216
AGGGTGTTCCGGGACACAGCGGAGCCCAAGTGGGATGAG | GAGTTTGAGATCGAGCTGGAG c.1680
R V F R D T A E P K W D E | E F E I E L E p.560
. . . . . . g.142276
GGCTCCCAGTCCCTGAGGATCCTGTGCTATGAGAAGTGCTATGACAAGACCAAGGTCAAC c.1740
G S Q S L R I L C Y E K C Y D K T K V N p.580
. . . . . | 17 . g.179221
AAGGACAACAATGAGATCGTGGACAAGATCATGGGCAAAGGACAGATCCAG | CTGGACCCA c.1800
K D N N E I V D K I M G K G Q I Q | L D P p.600
. . . . . | 18 . g.179588
CAAACCGTGGAGACCAAGAACTGGCACACGGACGTGATTGAGATGAACGGG | ATCAAAGTG c.1860
Q T V E T K N W H T D V I E M N G | I K V p.620
. . . . . . g.179648
GAATTTTCCATGAAATTCACCAGCCGAGATATGAGCCTGAAGAGGACCCCGTCCAAAAAG c.1920
E F S M K F T S R D M S L K R T P S K K p.640
. . . . | 19 . . g.180410
CAGACCGGCGTCTTCGGTGTGAAGATCAGCGTGGTGACGAA | GCGGGAGCGCTCCAAGGTG c.1980
Q T G V F G V K I S V V T K | R E R S K V p.660
. . . . . . g.180470
CCCTACATCGTCCGGCAGTGTGTGGAGGAGGTGGAGAAGAGGGGTATCGAGGAGGTTGGC c.2040
P Y I V R Q C V E E V E K R G I E E V G p.680
. . . . . . g.180530
ATCTACAGGATATCGGGCGTGGCCACGGACATCCAGGCGCTCAAGGCCGTCTTCGATGCC c.2100
I Y R I S G V A T D I Q A L K A V F D A p.700
| 20 . . . . . . g.181572
A | ATAACAAGGACATCCTGCTGATGCTGAGTGACATGGACATCAACGCCATCGCCGGGACG c.2160
N | N K D I L L M L S D M D I N A I A G T p.720
. . . . . . g.181632
CTCAAGCTGTACTTCCGGGAACTGCCCGAGCCGCTCCTCACGGACCGACTCTACCCAGCC c.2220
L K L Y F R E L P E P L L T D R L Y P A p.740
. | 21 . . . . . g.182636
TTCATGGAGGGCATCG | CCCTGTCAGACCCTGCTGCCAAGGAAAACTGCATGATGCACCTG c.2280
F M E G I A | L S D P A A K E N C M M H L p.760
. . . . . . g.182696
CTCCGCTCCCTGCCCGACCCCAACCTCATCACCTTCCTCTTCCTGCTGGAACACTTGAAA c.2340
L R S L P D P N L I T F L F L L E H L K p.780
| 22 . . . . . . g.185122
AG | GGTTGCCGAGAAGGAGCCCATCAACAAAATGTCACTTCACAACCTGGCTACCGTGTTT c.2400
R | V A E K E P I N K M S L H N L A T V F p.800
. . . . . . g.185182
GGACCCACGTTACTGAGACCCTCAGAAGTGGAGAGCAAAGCACACCTCACCTCGGCTGCG c.2460
G P T L L R P S E V E S K A H L T S A A p.820
. . . | 23 . . . g.186237
GACATCTGGTCCCATGACGTCATGGCGCAG | GTCCAGGTCCTCCTCTACTACCTGCAGCAC c.2520
D I W S H D V M A Q | V Q V L L Y Y L Q H p.840
. . . . . . g.186297
CCCCCCATTTCCTTCGCAGAACTCAAGCGGAACACACTGTACTTCTCCACCGACGTGTAG c.2580
P P I S F A E L K R N T L Y F S T D V X p.859
. . . . . . g.186357
cccgaggcagggtggctgcgggcgggtggtggaaccagcccctccagcctggggtccaac c.*60
. . . . . . g.186417
tcagacttgaaagactgcaatagaaaactcccaaacccagcactccagactcgagggaag c.*120
. . . . . . g.186477
ccagcttccaagaactggaatgcgtacgtcttttgtgccaccttgtacaaagccggctgc c.*180
. . . . . . g.186537
ccagccccagcctcaccaccgcatcccacctcctgccctccatacctctagttgtgtctg c.*240
. . . . . . g.186597
atgctccgtgctgttcgggaattgttttatgtacacttgtcaggcagaaaaggtagtgac c.*300
. . . . . . g.186657
cggcccggcgtgggcacacagacagcccgctttgttctttcatttcctccagcactttct c.*360
. . . . . . g.186717
ttccgcctgagtccagcccaaggccttttattttgcgctgtgtaactgctgccagcttct c.*420
. . . . . . g.186777
ctcttggccctgctcccagatggcggtctcctggcagcctcccctcagtcttcctccacc c.*480
. . . . . . g.186837
cgctcttccttcccagcctgcctgcatgcatgtgcacccttggtcttcgctccatcgcct c.*540
. . . . . . g.186897
tgaaagctctgaagaggccctgggttgccgcggcagcagtggtctgtttgatgctgccgt c.*600
. . . . . . g.186957
ttgccgctgccggcccctcctcagactccgcctttgggagcacacctgctttgccttgct c.*660
. . . . . . g.187017
gcctgtgcaaatgttggacaagcagacacactcacactcgtccccagcttagcacagagc c.*720
. . . . . . g.187077
tggagcgcccatttctggaattttccgtttgggaatctccacttctggggtttacctgtt c.*780
. . . . . . g.187137
cggcctcctgtctatcagtgaggcatctctgactgtttcttctactgcttttcagttccc c.*840
. . . . . . g.187197
ttccctgctgttctatttcctttgagtgtaaagactcacaggtgacctgctatcgagata c.*900
. . . . . . g.187257
gccagagggtcaggagagaatgggggaggaggcggtcaggctgctgaggaaacaccacag c.*960
. . . . . . g.187317
gctgaacgggggaggaatgcacatgccacgctgggtgtcccgggtcgcggggaggcagct c.*1020
. . . . . . g.187377
cagctcttaggagcaagttgtgggggcttttcaagaggggccaggcttcctggagggtga c.*1080
. . . . . . g.187437
ctgatgtggccgaagcaggtgtccaggcaggtaggctgcagccaggagctccctggcacc c.*1140
. . . . . . g.187497
gcaggacctcgtggtactcttgccttagattttacacacactccacagccaagcactgcc c.*1200
. . . . . . g.187557
acggtcctccaggacctgggaagcaaaggcacaggcccacggtggccagccattgtggtg c.*1260
. . . . . . g.187617
ccgccccagcttctggatacagccttttgggtaaacactgggaactccagaagttgtggg c.*1320
. . . . . . g.187677
gagagtggggaatcagacagccgcctctaggggctgggttctgctggggcctccttgttg c.*1380
. . . . . . g.187737
gtgctgtaggcacccgccagggagcagggacccgacttgcagacgcattgcccggtacta c.*1440
. . . . . . g.187797
ggaaggagtgaggtgtgttcccaccgtacacttcccacacgagctgcggctgccagcctc c.*1500
. . . . . . g.187857
gggccatcagcctaggagagcagatgcagctccaggggctcgacttatagccagttacag c.*1560
. . . . . . g.187917
ctccccggctcttctgtgtggcagagcgtcgtttccgggccctcagggctggggagctca c.*1620
. . . . . . g.187977
gttcccattgcttgtgctcagggctgagtcttaaagaagggtttgccggccctaacgctg c.*1680
. . . . . . g.188037
cagcgcgtgcgcggtgagaggccctttttgagcctgtttactcctgtggccttgggcaga c.*1740
. . . . . . g.188097
acagtaaatactctgtgcacggaggaaagacatgcccaagaggaaggaagtactgaccat c.*1800
. . . . . . g.188157
cggctgcctgtgagcagcttagcaaggagcccttgctccctgggaaaggcggtgaacttg c.*1860
. . . . . . g.188217
agtctaaagatgcagtgcctggcccttcctaaggtccctgcctggcatccgagtgtcggt c.*1920
. . . . . . g.188277
gtgtggcacagaaggctcctgcttgcttccaaagtgatggacaggaaggggcagagtgag c.*1980
. . . . . . g.188337
tcacggcccagactgggcaccttcgcgtctcagcctcagggagccccacagccccaagct c.*2040
. . . . . . g.188397
cgctgaggcaacgtgagaacaggctatgggaaggctgcaaaggctgagaaatgcaaaggc c.*2100
. . . . . . g.188457
tcatatttataaatcccacccccagagtggggagggtcaggtgccagacctggactaaac c.*2160
. . . . . . g.188517
tgcaccaaggaaacacccagcagggtctcctgtgagccggggaccatgcagcccgaaacc c.*2220
. . . . . . g.188577
tccagtcactgcgcccggcaggagtcaggagccagggactgtgcagcctggaacctccag c.*2280
. . . . . . g.188637
tcactgtgcccagcagggtgggctgtgcccagcaggagtcaggctaagaaacgccaggtc c.*2340
. . . . . . g.188697
tgcctgttcttgctgggcaatggctgatggctgccagtttctgctgatacacaggtagga c.*2400
. . . . . . g.188757
tgggacccttcatgaatatctgactttaataagttggtaaggatatatttttttgtctat c.*2460
. . . . . . g.188817
gttctgtttcaacttatgtagattattataaattgatgtaaaccacgtgagaggaaaatg c.*2520
. . . . g.188859
ttaataaaaaatgcaaagccccatcatttgcacaaaactcag c.*2562
(downstream sequence)
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