Canonical Allele Identifier: CA1515645958
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440361_177440362delinsCA , CM000666.2:g.177440361_177440362delinsCA GRCh38
NC_000004.11:g.178361515_178361516delinsCA , CM000666.1:g.178361515_178361516delinsCA GRCh37
NC_000004.10:g.178598509_178598510delinsCA NCBI36
NG_011845.2:g.7142_7143delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.192_193delinsTG MANE Select ENSP00000264595.2:p.Cys64=
ENST00000264595.6:c.192_193delinsTG ENSP00000264595.2:p.Cys64=
ENST00000506853.5:n.226_227delinsTG
ENST00000510955.5:n.226_227delinsTG
ENST00000511231.1:n.226_227delinsTG
NM_000027.3:c.192_193delinsTG NP_000018.2:p.Cys64=
NM_001171988.1:c.192_193delinsTG NP_001165459.1:p.Cys64=
NR_033655.1:n.320_321delinsTG
XM_006714123.2:c.192_193delinsTG XP_006714186.1:p.Cys64=
XR_001741155.2:n.286_287delinsTG
NM_000027.4:c.192_193delinsTG MANE Select NP_000018.2:p.Cys64=
NM_001171988.2:c.192_193delinsTG NP_001165459.1:p.Cys64=
NR_033655.2:n.254_255delinsTG