(used for variant description)
(last modified October 6, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_021160.2 in the ABHD16A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering ABHD16A transcript NM_021160.2.
(upstream sequence)
. g.5019
acacaacacctcagaggca c.-61
. . . . . . g.5079
gggagggcggggccggcagggggacctgctgctggaagagcagcggcccgagccggggcc c.-1
. . . . . . g.5139
ATGGCGAAGCTGCTGAGCTGCGTCCTAGGCCCCCGGCTCTACAAAATCTACCGGGAGAGG c.60
M A K L L S C V L G P R L Y K I Y R E R p.20
. . . . . . g.5199
GACTCTGAAAGGGCCCCGGCCAGCGTCCCTGAGACGCCAACGGCAGTCACTGCCCCCCAT c.120
D S E R A P A S V P E T P T A V T A P H p.40
. | 02 . . . . . g.6278
TCCAGCTCCTGG | GATACGTACTATCAGCCCCGTGCCCTGGAGAAACATGCTGACAGCATC c.180
S S S W | D T Y Y Q P R A L E K H A D S I p.60
| 03 . . . . . g.7071
CTGGCACTG | GCTTCAGTATTCTGGTCCATCTCTTATTACTCCTCTCCCTTCGCCTTCTTC c.240
L A L | A S V F W S I S Y Y S S P F A F F p.80
. | 04 . . . . . g.7376
TACTTGTACAGGAAAG | GTTACTTGAGTTTGTCCAAAGTGGTGCCGTTTTCTCACTATGCT c.300
Y L Y R K G | Y L S L S K V V P F S H Y A p.100
. . . . | 05 . . g.11344
GGGACATTGCTGCTACTTCTGGCAGGTGTGGCCTGCCTCCGAG | GCATTGGCCGCTGGACC c.360
G T L L L L L A G V A C L R G | I G R W T p.120
. . . . . . g.11404
AACCCCCAGTACCGGCAGTTCATCACCATCTTGGAAGCAACACATCGGAACCAGTCTTCA c.420
N P Q Y R Q F I T I L E A T H R N Q S S p.140
| 06 . . . . . g.14979
GAAAACAAG | AGGCAGCTTGCCAACTACAACTTTGACTTCCGGAGCTGGCCAGTCGACTTC c.480
E N K | R Q L A N Y N F D F R S W P V D F p.160
. . | 07 . . . . g.15248
CACTGGGAAGAACCCAGCAGCCG | GAAGGAGTCTCGAGGGGGCCCTTCCCGCCGGGGTGTG c.540
H W E E P S S R | K E S R G G P S R R G V p.180
. . . . . . g.15308
GCCCTGCTTCGCCCAGAGCCCCTGCACCGGGGGACAGCAGACACCCTCCTCAACCGGGTT c.600
A L L R P E P L H R G T A D T L L N R V p.200
. . | 08 . . . . g.16476
AAGAAGCTGCCTTGTCAGATCACCAG | CTACCTGGTGGCGCACACCCTAGGGCGCCGGATG c.660
K K L P C Q I T S | Y L V A H T L G R R M p.220
. . . . . . g.16536
CTGTATCCAGGCTCTGTGTACCTGCTGCAGAAGGCCCTCATGCCTGTGCTGCTGCAGGGC c.720
L Y P G S V Y L L Q K A L M P V L L Q G p.240
. . | 09 . . . . g.16719
CAGGCCCGACTGGTGGAAGAG | TGTAATGGGCGCCGGGCAAAGCTGCTGGCCTGTGATGGC c.780
Q A R L V E E | C N G R R A K L L A C D G p.260
. . . . . . g.16779
AATGAGATTGACACCATGTTTGTGGACCGGCGGGGGACAGCTGAGCCCCAGGGACAGAAG c.840
N E I D T M F V D R R G T A E P Q G Q K p.280
| 10 . . . . . . g.17815
CTG | GTGATCTGCTGTGAGGGGAATGCTGGGTTTTATGAGGTGGGCTGCGTCTCCACGCCC c.900
L | V I C C E G N A G F Y E V G C V S T P p.300
| 11. . . . . | 12. g.18659
CTGGAAG | CTGGATATTCAGTCCTGGGCTGGAATCATCCAGGCTTTGCTGGAAGCACG | GGG c.960
L E A | G Y S V L G W N H P G F A G S T | G p.320
. . . . . . g.18719
GTGCCATTCCCGCAGAATGAGGCTAATGCCATGGATGTGGTGGTCCAGTTTGCCATCCAC c.1020
V P F P Q N E A N A M D V V V Q F A I H p.340
. . . . . . g.18779
CGCCTAGGCTTCCAGCCCCAGGACATCATCATCTACGCCTGGTCCATCGGCGGCTTCACT c.1080
R L G F Q P Q D I I I Y A W S I G G F T p.360
| 13 . . . . . . g.19300
G | CCACGTGGGCAGCCATGTCCTACCCAGATGTTAGTGCCATGATCCTGGATGCCTCCTTT c.1140
A | T W A A M S Y P D V S A M I L D A S F p.380
. . . . | 14 . . g.19588
GATGACCTGGTGCCCTTGGCCTTGAAGGTCATGCCAGACAGCTGGA | GGGGCCTGGTGACC c.1200
D D L V P L A L K V M P D S W R | G L V T p.400
. . . . . | 15 . g.20065
AGGACCGTGAGGCAGCATCTCAATCTAAACAACGCGGAGCAGCTGTGCAG | ATACCAGGGT c.1260
R T V R Q H L N L N N A E Q L C R | Y Q G p.420
. . . . | 16. . g.20270
CCTGTACTGCTGATCCGGAGAACCAAGGATGAGATCATCACCACCAC | GGTTCCTGAGGAC c.1320
P V L L I R R T K D E I I T T T | V P E D p.440
. . . . . | 17 . g.20470
ATCATGTCCAACCGAGGCAATGACCTCCTGCTGAAGCTCCTGCAGCATCG | GTATCCCCGG c.1380
I M S N R G N D L L L K L L Q H R | Y P R p.460
. . . . . . g.20530
GTGATGGCAGAGGAGGGTCTTCGAGTGGTGAGGCAGTGGTTGGAGGCCTCCTCACAGCTG c.1440
V M A E E G L R V V R Q W L E A S S Q L p.480
| 18. . . . . . g.20673
GAGGAAG | CCTCAATTTATAGCCGATGGGAGGTGGAAGAGGACTGGTGTCTGTCTGTCCTC c.1500
E E A | S I Y S R W E V E E D W C L S V L p.500
. . . . | 19 . . g.20830
CGCTCCTACCAGGCAGAACACGGGCCCGACTTCCCCTGGAGCGTGG | GGGAGGACATGAGT c.1560
R S Y Q A E H G P D F P W S V G | E D M S p.520
. . . | 20 . . . g.21092
GCAGATGGACGGCGGCAGCTGGCTTTGTTTCTG | GCTCGGAAGCATCTGCACAACTTTGAG c.1620
A D G R R Q L A L F L | A R K H L H N F E p.540
. . . . . g.21149
GCCACTCACTGCACCCCACTCCCAGCCCAGAACTTCCAGATGCCCTGGCACCTCTAG c.1677
A T H C T P L P A Q N F Q M P W H L X p.558
. . . . . . g.21209
ggaccaactgggactcattatggaagaatggggtgagaggagacatgaggaaagaccctc c.*60
. . . . . . g.21269
ttatttgtgattctctgtgttcatgttgctgtttatagtttgtggaaagtgggggaccat c.*120
. . . . . . g.21329
cccccttctcaccactgttcctcttgcacgtttcccctcattcatgtggctgtacttaac c.*180
. . . . . . g.21389
cttctccaacatacatcctgcattacatgaatggattattcctaataattaataaaaagg c.*240
. . g.21412
tattttttctactatcaggctaa c.*263
(downstream sequence)
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