Canonical Allele Identifier: CA1012887452

Gene: TMEM63A

Linked Data

• gnomAD v3: 1-225852476-GTCTC-G
• gnomAD v4: 1-225852476-GTCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852477_225852480del , CM000663.2:g.225852477_225852480del	GRCh38
NC_000001.10:g.226040178_226040181del , CM000663.1:g.226040178_226040181del	GRCh37
NC_000001.9:g.224106801_224106804del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366835.8:c.1903+184_1903+187del MANE Select	ENSP00000355800.3:n.1903+184_1903+187del
ENST00000366835.7:c.1903+184_1903+187del	ENSP00000355800.3:n.1903+184_1903+187del
NM_014698.2:c.1903+184_1903+187del	NP_055513.2:n.1903+184_1903+187del
XM_006711841.2:c.1372+184_1372+187del	XP_006711904.1:n.1372+184_1372+187del
XM_011544328.1:c.1903+184_1903+187del	XP_011542630.1:n.1903+184_1903+187del
XM_011544329.1:c.1903+184_1903+187del	XP_011542631.1:n.1903+184_1903+187del
XM_011544330.1:c.1903+184_1903+187del	XP_011542632.1:n.1903+184_1903+187del
XM_011544331.1:c.1816+184_1816+187del	XP_011542633.1:n.1816+184_1816+187del
XM_011544332.1:c.1462+184_1462+187del	XP_011542634.1:n.1462+184_1462+187del
XR_949163.1:n.2208+184_2208+187del
XM_006711841.4:c.1372+184_1372+187del	XP_006711904.1:n.1372+184_1372+187del
XM_011544328.3:c.1903+184_1903+187del	XP_011542630.1:n.1903+184_1903+187del
XM_011544329.3:c.1903+184_1903+187del	XP_011542631.1:n.1903+184_1903+187del
XM_011544330.3:c.1903+184_1903+187del	XP_011542632.1:n.1903+184_1903+187del
XM_011544331.3:c.1816+184_1816+187del	XP_011542633.1:n.1816+184_1816+187del
XM_011544332.3:c.1462+184_1462+187del	XP_011542634.1:n.1462+184_1462+187del
XR_001737552.2:n.1990+184_1990+187del
XR_949163.3:n.2187+184_2187+187del
NM_014698.3:c.1903+184_1903+187del MANE Select	NP_055513.2:n.1903+184_1903+187del