Canonical Allele Identifier: CA2747969022
Gene: TMEM63A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.225852620_225852622del , CM000663.2:g.225852620_225852622del GRCh38
NC_000001.10:g.226040321_226040323del , CM000663.1:g.226040321_226040323del GRCh37
NC_000001.9:g.224106944_224106946del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366835.8:c.1903+42_1903+44del MANE Select ENSP00000355800.3:n.1903+42_1903+44del
ENST00000366835.7:c.1903+42_1903+44del ENSP00000355800.3:n.1903+42_1903+44del
NM_014698.2:c.1903+42_1903+44del NP_055513.2:n.1903+42_1903+44del
XM_006711841.2:c.1372+42_1372+44del XP_006711904.1:n.1372+42_1372+44del
XM_011544328.1:c.1903+42_1903+44del XP_011542630.1:n.1903+42_1903+44del
XM_011544329.1:c.1903+42_1903+44del XP_011542631.1:n.1903+42_1903+44del
XM_011544330.1:c.1903+42_1903+44del XP_011542632.1:n.1903+42_1903+44del
XM_011544331.1:c.1816+42_1816+44del XP_011542633.1:n.1816+42_1816+44del
XM_011544332.1:c.1462+42_1462+44del XP_011542634.1:n.1462+42_1462+44del
XR_949163.1:n.2208+42_2208+44del
XM_006711841.4:c.1372+42_1372+44del XP_006711904.1:n.1372+42_1372+44del
XM_011544328.3:c.1903+42_1903+44del XP_011542630.1:n.1903+42_1903+44del
XM_011544329.3:c.1903+42_1903+44del XP_011542631.1:n.1903+42_1903+44del
XM_011544330.3:c.1903+42_1903+44del XP_011542632.1:n.1903+42_1903+44del
XM_011544331.3:c.1816+42_1816+44del XP_011542633.1:n.1816+42_1816+44del
XM_011544332.3:c.1462+42_1462+44del XP_011542634.1:n.1462+42_1462+44del
XR_001737552.2:n.1990+42_1990+44del
XR_949163.3:n.2187+42_2187+44del
NM_014698.3:c.1903+42_1903+44del MANE Select NP_055513.2:n.1903+42_1903+44del