Canonical Allele Identifier: CA1224646516

Gene: TMEM63A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852440_225852442delinsCAT , CM000663.2:g.225852440_225852442delinsCAT	GRCh38
NC_000001.10:g.226040141_226040143delinsCAT , CM000663.1:g.226040141_226040143delinsCAT	GRCh37
NC_000001.9:g.224106764_224106766delinsCAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366835.8:c.1903+222_1903+224delinsATG MANE Select	ENSP00000355800.3:n.1903+222_1903+224delinsATG
ENST00000366835.7:c.1903+222_1903+224delinsATG	ENSP00000355800.3:n.1903+222_1903+224delinsATG
NM_014698.2:c.1903+222_1903+224delinsATG	NP_055513.2:n.1903+222_1903+224delinsATG
XM_006711841.2:c.1372+222_1372+224delinsATG	XP_006711904.1:n.1372+222_1372+224delinsATG
XM_011544328.1:c.1903+222_1903+224delinsATG	XP_011542630.1:n.1903+222_1903+224delinsATG
XM_011544329.1:c.1903+222_1903+224delinsATG	XP_011542631.1:n.1903+222_1903+224delinsATG
XM_011544330.1:c.1903+222_1903+224delinsATG	XP_011542632.1:n.1903+222_1903+224delinsATG
XM_011544331.1:c.1816+222_1816+224delinsATG	XP_011542633.1:n.1816+222_1816+224delinsATG
XM_011544332.1:c.1462+222_1462+224delinsATG	XP_011542634.1:n.1462+222_1462+224delinsATG
XR_949163.1:n.2208+222_2208+224delinsATG
XM_006711841.4:c.1372+222_1372+224delinsATG	XP_006711904.1:n.1372+222_1372+224delinsATG
XM_011544328.3:c.1903+222_1903+224delinsATG	XP_011542630.1:n.1903+222_1903+224delinsATG
XM_011544329.3:c.1903+222_1903+224delinsATG	XP_011542631.1:n.1903+222_1903+224delinsATG
XM_011544330.3:c.1903+222_1903+224delinsATG	XP_011542632.1:n.1903+222_1903+224delinsATG
XM_011544331.3:c.1816+222_1816+224delinsATG	XP_011542633.1:n.1816+222_1816+224delinsATG
XM_011544332.3:c.1462+222_1462+224delinsATG	XP_011542634.1:n.1462+222_1462+224delinsATG
XR_001737552.2:n.1990+222_1990+224delinsATG
XR_949163.3:n.2187+222_2187+224delinsATG
NM_014698.3:c.1903+222_1903+224delinsATG MANE Select	NP_055513.2:n.1903+222_1903+224delinsATG