Canonical Allele Identifier: CA1224646523
Gene: TMEM63A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.225852452_225852453delinsGC , CM000663.2:g.225852452_225852453delinsGC GRCh38
NC_000001.10:g.226040153_226040154delinsGC , CM000663.1:g.226040153_226040154delinsGC GRCh37
NC_000001.9:g.224106776_224106777delinsGC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366835.8:c.1903+211_1903+212delinsGC MANE Select ENSP00000355800.3:n.1903+211_1903+212delinsGC
ENST00000366835.7:c.1903+211_1903+212delinsGC ENSP00000355800.3:n.1903+211_1903+212delinsGC
NM_014698.2:c.1903+211_1903+212delinsGC NP_055513.2:n.1903+211_1903+212delinsGC
XM_006711841.2:c.1372+211_1372+212delinsGC XP_006711904.1:n.1372+211_1372+212delinsGC
XM_011544328.1:c.1903+211_1903+212delinsGC XP_011542630.1:n.1903+211_1903+212delinsGC
XM_011544329.1:c.1903+211_1903+212delinsGC XP_011542631.1:n.1903+211_1903+212delinsGC
XM_011544330.1:c.1903+211_1903+212delinsGC XP_011542632.1:n.1903+211_1903+212delinsGC
XM_011544331.1:c.1816+211_1816+212delinsGC XP_011542633.1:n.1816+211_1816+212delinsGC
XM_011544332.1:c.1462+211_1462+212delinsGC XP_011542634.1:n.1462+211_1462+212delinsGC
XR_949163.1:n.2208+211_2208+212delinsGC
XM_006711841.4:c.1372+211_1372+212delinsGC XP_006711904.1:n.1372+211_1372+212delinsGC
XM_011544328.3:c.1903+211_1903+212delinsGC XP_011542630.1:n.1903+211_1903+212delinsGC
XM_011544329.3:c.1903+211_1903+212delinsGC XP_011542631.1:n.1903+211_1903+212delinsGC
XM_011544330.3:c.1903+211_1903+212delinsGC XP_011542632.1:n.1903+211_1903+212delinsGC
XM_011544331.3:c.1816+211_1816+212delinsGC XP_011542633.1:n.1816+211_1816+212delinsGC
XM_011544332.3:c.1462+211_1462+212delinsGC XP_011542634.1:n.1462+211_1462+212delinsGC
XR_001737552.2:n.1990+211_1990+212delinsGC
XR_949163.3:n.2187+211_2187+212delinsGC
NM_014698.3:c.1903+211_1903+212delinsGC MANE Select NP_055513.2:n.1903+211_1903+212delinsGC