Canonical Allele Identifier: CA1515644817
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439636_177439637delinsTA , CM000666.2:g.177439636_177439637delinsTA GRCh38
NC_000004.11:g.178360790_178360791delinsTA , CM000666.1:g.178360790_178360791delinsTA GRCh37
NC_000004.10:g.178597784_178597785delinsTA NCBI36
NG_011845.2:g.7867_7868delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.333_334delinsTA MANE Select ENSP00000264595.2:p.Ala111=
ENST00000264595.6:c.333_334delinsTA ENSP00000264595.2:p.Ala111=
ENST00000506853.5:n.367_368delinsTA
ENST00000510635.1:c.29_30delinsTA
ENST00000510955.5:n.315+636_315+637delinsTA
NM_000027.3:c.333_334delinsTA NP_000018.2:p.Ala111=
NM_001171988.1:c.333_334delinsTA NP_001165459.1:p.Ala111=
NR_033655.1:n.461_462delinsTA
XM_006714123.2:c.333_334delinsTA XP_006714186.1:p.Ala111=
XR_001741155.2:n.427_428delinsTA
NM_000027.4:c.333_334delinsTA MANE Select NP_000018.2:p.Ala111=
NM_001171988.2:c.333_334delinsTA NP_001165459.1:p.Ala111=
NR_033655.2:n.395_396delinsTA