Canonical Allele Identifier: CA658797972

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 509956
• ClinVar RCV Id: RCV000604354
• dbSNP Id: rs1555295264

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123712699_123712702delinsTCT , CM000674.2:g.123712699_123712702delinsTCT	GRCh38
NC_000012.11:g.124197246_124197249delinsTCT , CM000674.1:g.124197246_124197249delinsTCT	GRCh37
NC_000012.10:g.122763199_122763202delinsTCT	NCBI36
NG_012743.1:g.5382_5385delinsTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.117+17_117+20delinsTCT MANE Select	ENSP00000332247.2:n.117+17_117+20delinsTCT
ENST00000540368.6:n.148+17_148+20delinsTCT
ENST00000613625.5:c.117+17_117+20delinsTCT	ENSP00000482236.1:n.117+17_117+20delinsTCT
ENST00000675344.1:c.117+17_117+20delinsTCT	ENSP00000501953.1:n.117+17_117+20delinsTCT
ENST00000676034.1:n.100+17_100+20delinsTCT
ENST00000330342.7:c.117+17_117+20delinsTCT	ENSP00000332247.2:n.117+17_117+20delinsTCT
ENST00000540368.5:n.327+17_327+20delinsTCT
ENST00000613625.4:c.117+17_117+20delinsTCT	ENSP00000482236.1:n.117+17_117+20delinsTCT
NM_012463.3:c.117+17_117+20delinsTCT	NP_036595.2:n.117+17_117+20delinsTCT
XM_005253563.1:c.117+17_117+20delinsTCT	XP_005253620.1:n.117+17_117+20delinsTCT
XR_429088.1:n.280+17_280+20delinsTCT
XR_945477.1:n.3196_3199delinsAGA
XR_945478.1:n.2944_2947delinsAGA
XR_945479.1:n.3086_3089delinsAGA
XM_024448910.1:c.117+17_117+20delinsTCT	XP_024304678.1:n.117+17_117+20delinsTCT
NM_012463.4:c.117+17_117+20delinsTCT MANE Select	NP_036595.2:n.117+17_117+20delinsTCT