Canonical Allele Identifier: CA2580077501
Gene: ATP6V0A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2188863
ClinVar RCV Id: RCV002620552
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138733045_138733046delinsTG , CM000669.2:g.138733045_138733046delinsTG GRCh38
NC_000007.13:g.138417790_138417791delinsTG , CM000669.1:g.138417790_138417791delinsTG GRCh37
NC_000007.12:g.138068330_138068331delinsTG NCBI36
NG_008145.1:g.70151_70152delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000310018.7:c.1739_1740delinsCA MANE Select ENSP00000308122.2:p.Met580Thr
ENST00000478480.2:c.965_966delinsCA ENSP00000495261.1:p.Met322Thr
ENST00000644341.1:c.965_966delinsCA ENSP00000495642.1:p.Met322Thr
ENST00000645515.1:c.1739_1740delinsCA ENSP00000496421.1:p.Met580Thr
ENST00000647427.1:c.632_633delinsCA ENSP00000496259.1:p.Met211Thr
ENST00000310018.6:c.1739_1740delinsCA ENSP00000308122.2:p.Met580Thr
ENST00000353492.4:c.1739_1740delinsCA ENSP00000253856.6:p.Met580Thr
ENST00000393054.5:c.1739_1740delinsCA ENSP00000376774.1:p.Met580Thr
NM_020632.2:c.1739_1740delinsCA NP_065683.2:p.Met580Thr
NM_130840.2:c.1739_1740delinsCA NP_570855.2:p.Met580Thr
NM_130841.2:c.1739_1740delinsCA NP_570856.2:p.Met580Thr
XM_005250393.1:c.1739_1740delinsCA XP_005250450.1:p.Met580Thr
XM_005250394.2:c.1739_1740delinsCA XP_005250451.1:p.Met580Thr
XM_005250394.3:c.1739_1740delinsCA XP_005250451.1:p.Met580Thr
NM_020632.3:c.1739_1740delinsCA MANE Select NP_065683.2:p.Met580Thr
NM_130840.3:c.1739_1740delinsCA NP_570855.2:p.Met580Thr
NM_130841.3:c.1739_1740delinsCA NP_570856.2:p.Met580Thr
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