Canonical Allele Identifier: CA1224646505

Gene: TMEM63A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852417_225852418delinsTG , CM000663.2:g.225852417_225852418delinsTG	GRCh38
NC_000001.10:g.226040118_226040119delinsTG , CM000663.1:g.226040118_226040119delinsTG	GRCh37
NC_000001.9:g.224106741_224106742delinsTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366835.8:c.1903+246_1903+247delinsCA MANE Select	ENSP00000355800.3:n.1903+246_1903+247delinsCA
ENST00000366835.7:c.1903+246_1903+247delinsCA	ENSP00000355800.3:n.1903+246_1903+247delinsCA
NM_014698.2:c.1903+246_1903+247delinsCA	NP_055513.2:n.1903+246_1903+247delinsCA
XM_006711841.2:c.1372+246_1372+247delinsCA	XP_006711904.1:n.1372+246_1372+247delinsCA
XM_011544328.1:c.1903+246_1903+247delinsCA	XP_011542630.1:n.1903+246_1903+247delinsCA
XM_011544329.1:c.1903+246_1903+247delinsCA	XP_011542631.1:n.1903+246_1903+247delinsCA
XM_011544330.1:c.1903+246_1903+247delinsCA	XP_011542632.1:n.1903+246_1903+247delinsCA
XM_011544331.1:c.1816+246_1816+247delinsCA	XP_011542633.1:n.1816+246_1816+247delinsCA
XM_011544332.1:c.1462+246_1462+247delinsCA	XP_011542634.1:n.1462+246_1462+247delinsCA
XR_949163.1:n.2208+246_2208+247delinsCA
XM_006711841.4:c.1372+246_1372+247delinsCA	XP_006711904.1:n.1372+246_1372+247delinsCA
XM_011544328.3:c.1903+246_1903+247delinsCA	XP_011542630.1:n.1903+246_1903+247delinsCA
XM_011544329.3:c.1903+246_1903+247delinsCA	XP_011542631.1:n.1903+246_1903+247delinsCA
XM_011544330.3:c.1903+246_1903+247delinsCA	XP_011542632.1:n.1903+246_1903+247delinsCA
XM_011544331.3:c.1816+246_1816+247delinsCA	XP_011542633.1:n.1816+246_1816+247delinsCA
XM_011544332.3:c.1462+246_1462+247delinsCA	XP_011542634.1:n.1462+246_1462+247delinsCA
XR_001737552.2:n.1990+246_1990+247delinsCA
XR_949163.3:n.2187+246_2187+247delinsCA
NM_014698.3:c.1903+246_1903+247delinsCA MANE Select	NP_055513.2:n.1903+246_1903+247delinsCA