Canonical Allele Identifier: CA1224646539

Gene: TMEM63A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225852489_225852493delinsAAAAG , CM000663.2:g.225852489_225852493delinsAAAAG	GRCh38
NC_000001.10:g.226040190_226040194delinsAAAAG , CM000663.1:g.226040190_226040194delinsAAAAG	GRCh37
NC_000001.9:g.224106813_224106817delinsAAAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366835.8:c.1903+171_1903+175delinsCTTTT MANE Select	ENSP00000355800.3:n.1903+171_1903+175delinsCTTTT
ENST00000366835.7:c.1903+171_1903+175delinsCTTTT	ENSP00000355800.3:n.1903+171_1903+175delinsCTTTT
NM_014698.2:c.1903+171_1903+175delinsCTTTT	NP_055513.2:n.1903+171_1903+175delinsCTTTT
XM_006711841.2:c.1372+171_1372+175delinsCTTTT	XP_006711904.1:n.1372+171_1372+175delinsCTTTT
XM_011544328.1:c.1903+171_1903+175delinsCTTTT	XP_011542630.1:n.1903+171_1903+175delinsCTTTT
XM_011544329.1:c.1903+171_1903+175delinsCTTTT	XP_011542631.1:n.1903+171_1903+175delinsCTTTT
XM_011544330.1:c.1903+171_1903+175delinsCTTTT	XP_011542632.1:n.1903+171_1903+175delinsCTTTT
XM_011544331.1:c.1816+171_1816+175delinsCTTTT	XP_011542633.1:n.1816+171_1816+175delinsCTTTT
XM_011544332.1:c.1462+171_1462+175delinsCTTTT	XP_011542634.1:n.1462+171_1462+175delinsCTTTT
XR_949163.1:n.2208+171_2208+175delinsCTTTT
XM_006711841.4:c.1372+171_1372+175delinsCTTTT	XP_006711904.1:n.1372+171_1372+175delinsCTTTT
XM_011544328.3:c.1903+171_1903+175delinsCTTTT	XP_011542630.1:n.1903+171_1903+175delinsCTTTT
XM_011544329.3:c.1903+171_1903+175delinsCTTTT	XP_011542631.1:n.1903+171_1903+175delinsCTTTT
XM_011544330.3:c.1903+171_1903+175delinsCTTTT	XP_011542632.1:n.1903+171_1903+175delinsCTTTT
XM_011544331.3:c.1816+171_1816+175delinsCTTTT	XP_011542633.1:n.1816+171_1816+175delinsCTTTT
XM_011544332.3:c.1462+171_1462+175delinsCTTTT	XP_011542634.1:n.1462+171_1462+175delinsCTTTT
XR_001737552.2:n.1990+171_1990+175delinsCTTTT
XR_949163.3:n.2187+171_2187+175delinsCTTTT
NM_014698.3:c.1903+171_1903+175delinsCTTTT MANE Select	NP_055513.2:n.1903+171_1903+175delinsCTTTT