Canonical Allele Identifier: CA1515645082
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439744_177439745delinsTA , CM000666.2:g.177439744_177439745delinsTA GRCh38
NC_000004.11:g.178360898_178360899delinsTA , CM000666.1:g.178360898_178360899delinsTA GRCh37
NC_000004.10:g.178597892_178597893delinsTA NCBI36
NG_011845.2:g.7759_7760delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.282-57_282-56delinsTA MANE Select ENSP00000264595.2:n.282-57_282-56delinsTA
ENST00000264595.6:c.282-57_282-56delinsTA ENSP00000264595.2:n.282-57_282-56delinsTA
ENST00000506853.5:n.316-57_316-56delinsTA
ENST00000510955.5:n.315+528_315+529delinsTA
NM_000027.3:c.282-57_282-56delinsTA NP_000018.2:n.282-57_282-56delinsTA
NM_001171988.1:c.282-57_282-56delinsTA NP_001165459.1:n.282-57_282-56delinsTA
NR_033655.1:n.410-57_410-56delinsTA
XM_006714123.2:c.282-57_282-56delinsTA XP_006714186.1:n.282-57_282-56delinsTA
XR_001741155.2:n.376-57_376-56delinsTA
NM_000027.4:c.282-57_282-56delinsTA MANE Select NP_000018.2:n.282-57_282-56delinsTA
NM_001171988.2:c.282-57_282-56delinsTA NP_001165459.1:n.282-57_282-56delinsTA
NR_033655.2:n.344-57_344-56delinsTA