Canonical Allele Identifier: CA1515649383
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442320_177442321delinsGC , CM000666.2:g.177442320_177442321delinsGC GRCh38
NC_000004.11:g.178363474_178363475delinsGC , CM000666.1:g.178363474_178363475delinsGC GRCh37
NC_000004.10:g.178600468_178600469delinsGC NCBI36
NG_011845.2:g.5183_5184delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.55_56delinsGC MANE Select ENSP00000264595.2:p.Ala19=
ENST00000264595.6:c.55_56delinsGC ENSP00000264595.2:p.Ala19=
ENST00000506853.5:n.89_90delinsGC
ENST00000510955.5:n.89_90delinsGC
ENST00000511231.1:n.89_90delinsGC
NM_000027.3:c.55_56delinsGC NP_000018.2:p.Ala19=
NM_001171988.1:c.55_56delinsGC NP_001165459.1:p.Ala19=
NR_033655.1:n.183_184delinsGC
XM_006714123.2:c.55_56delinsGC XP_006714186.1:p.Ala19=
XR_001741155.2:n.149_150delinsGC
NM_000027.4:c.55_56delinsGC MANE Select NP_000018.2:p.Ala19=
NM_001171988.2:c.55_56delinsGC NP_001165459.1:p.Ala19=
NR_033655.2:n.117_118delinsGC