(used for variant description)
(last modified November 25, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_032360.3 in the ACBD6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering ACBD6 transcript NM_032360.3.
(upstream sequence)
. . g.5021
ttcccgcgactccgctctcac c.-601
. . . . . . g.5081
cgctacactaccacacaaacggcctccttcccccacccccgggggcccatcccggtggcg c.-541
. . . . . . g.5141
ggctccggagctcgggactgctaatttcagcgaaacgattaaaagacgcccctacagctg c.-481
. . . . . . g.5201
acggcactttctctcctccggcagggaaggacgtccagcgtagcgtcgcccgcgcttccc c.-421
. . . . . . g.5261
cgccggcgcagagcaggcctcacagaatcgcacgccgctggcacgcacgccgccccgccc c.-361
. . . . . . g.5321
ccacggcccagcgccagccgcgccccgcgctcgcacgcatcccggcctcactgcccctcg c.-301
. . . . . . g.5381
actcctgttccgttggaggggcctgaggcgagcctgagcgcgctgttggccggagggaag c.-241
. . . . . . g.5441
ccggaggagaccgggtcgactgggcagagcggcagagggtcgaggagcctgctctgcacg c.-181
. . . . . . g.5501
cccagggagtagaagtgggcagggagcagggtcacgtgagggagcgcgccgcgactgagc c.-121
. . . . . . g.5561
ttgggtccgactggagctcaggctcgcgacccagactggtgggccaggcctccaagccgg c.-61
. . . . . . g.5621
ccttacacccaatccaaggaggacagaccggacacagagggacggagcgagcaaggagac c.-1
. . . . . . g.5681
ATGGCTTCATCATTCCTGCCCGCGGGGGCCATCACCGGCGACAGCGGTGGAGAGCTGAGC c.60
M A S S F L P A G A I T G D S G G E L S p.20
. . . . . . g.5741
TCAGGGGACGACTCCGGGGAGGTGGAGTTCCCCCATAGCCCTGAGATCGAGGAGACCAGT c.120
S G D D S G E V E F P H S P E I E E T S p.40
. . . . . . g.5801
TGCCTGGCCGAGCTGTTTGAGAAGGCTGCCGCGCACCTGCAAGGCCTGATTCAGGTGGCC c.180
C L A E L F E K A A A H L Q G L I Q V A p.60
. . . . | 02 . . g.12380
AGCAGGGAGCAGCTCTTGTACCTGTATGCCAGGTACAAACAG | GTCAAAGTTGGAAATTGT c.240
S R E Q L L Y L Y A R Y K Q | V K V G N C p.80
. . . . | 03. . g.15535
AATACTCCTAAACCAAGCTTCTTTGATTTTGAAGGAAAGCAAAAATG | GGAAGCTTGGAAA c.300
N T P K P S F F D F E G K Q K W | E A W K p.100
. . . . . . g.15595
GCACTTGGTGATTCAAGCCCCAGCCAAGCAATGCAGGAATATATCGCAGTAGTTAAAAAA c.360
A L G D S S P S Q A M Q E Y I A V V K K p.120
. . | 04 . . . . g.77661
CTAGATCCAGGTTGGAATCCTCAG | ATACCAGAGAAGAAAGGAAAAGAAGCAAATACAGGT c.420
L D P G W N P Q | I P E K K G K E A N T G p.140
. . . . | 05. . g.94429
TTTGGTGGGCCAGTTATTAGTTCTCTATATCATGAAGAAACCATCAG | GGAAGAAGACAAA c.480
F G G P V I S S L Y H E E T I R | E E D K p.160
. . . . . . g.94489
AATATATTTGATTACTGCAGGGAAAACAACATTGACCATATAACCAAAGCCATCAAATCG c.540
N I F D Y C R E N N I D H I T K A I K S p.180
. . . | 06 . . . g.110309
AAAAATGTGGATGTGAATGTGAAAGATGAAGAG | GGTAGGGCTCTACTTCACTGGGCCTGT c.600
K N V D V N V K D E E | G R A L L H W A C p.200
. . . . . . g.110369
GATCGAGGACATAAGGAACTAGTCACAGTGTTGCTGCAACATAGAGCTGACATTAACTGT c.660
D R G H K E L V T V L L Q H R A D I N C p.220
| 07 . . . | 08 . . . g.219396
CAG | GACAATGAAGGCCAAACAGCTCTACATTATG | CCTCTGCCTGTGAGTTTCTGGATATT c.720
Q | D N E G Q T A L H Y A | S A C E F L D I p.240
. . . . . . g.219456
GTAGAGCTGCTGCTCCAGTCTGGTGCTGACCCCACTCTCCGAGACCAGGATGGCTGCCTG c.780
V E L L L Q S G A D P T L R D Q D G C L p.260
. . . . . . g.219516
CCAGAGGAGGTGACAGGCTGCAAAACAGTTTCTTTGGTGCTGCAGCGGCACACAACTGGC c.840
P E E V T G C K T V S L V L Q R H T T G p.280
g.219525
AAGGCTTAA c.849
K A X p.282
. . . . . . g.219585
tcaaaagactggaaaactgcagtctgtaatagcataaggcttccattatgaaagaaaact c.*60
. . . . . . g.219645
acaaaaataatacttcttttccacccgtctttggtatgtattggctaataaaatcagttc c.*120
. . g.219671
tgtggaactgggattttgaagtctca c.*146
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 29
©2004-2023 Leiden University Medical Center