Canonical Allele Identifier: CA1515645920
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440343_177440344delinsCG , CM000666.2:g.177440343_177440344delinsCG GRCh38
NC_000004.11:g.178361497_178361498delinsCG , CM000666.1:g.178361497_178361498delinsCG GRCh37
NC_000004.10:g.178598491_178598492delinsCG NCBI36
NG_011845.2:g.7160_7161delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.210_211delinsCG MANE Select ENSP00000264595.2:p.Asp70=
ENST00000264595.6:c.210_211delinsCG ENSP00000264595.2:p.Asp70=
ENST00000506853.5:n.244_245delinsCG
ENST00000510955.5:n.244_245delinsCG
ENST00000511231.1:n.244_245delinsCG
NM_000027.3:c.210_211delinsCG NP_000018.2:p.Asp70=
NM_001171988.1:c.210_211delinsCG NP_001165459.1:p.Asp70=
NR_033655.1:n.338_339delinsCG
XM_006714123.2:c.210_211delinsCG XP_006714186.1:p.Asp70=
XR_001741155.2:n.304_305delinsCG
NM_000027.4:c.210_211delinsCG MANE Select NP_000018.2:p.Asp70=
NM_001171988.2:c.210_211delinsCG NP_001165459.1:p.Asp70=
NR_033655.2:n.272_273delinsCG