Canonical Allele Identifier: CA1515642230
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437686_177437689delinsTAAG , CM000666.2:g.177437686_177437689delinsTAAG GRCh38
NC_000004.11:g.178358840_178358843delinsTAAG , CM000666.1:g.178358840_178358843delinsTAAG GRCh37
NC_000004.10:g.178595834_178595837delinsTAAG NCBI36
NG_011845.2:g.9815_9818delinsCTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-170_508-167delinsCTTA MANE Select ENSP00000264595.2:n.508-170_508-167delinsCTTA
ENST00000264595.6:c.508-170_508-167delinsCTTA ENSP00000264595.2:n.508-170_508-167delinsCTTA
ENST00000502310.5:c.163-170_163-167delinsCTTA ENSP00000423798.1:n.163-170_163-167delinsCTTA
ENST00000506853.5:n.542-170_542-167delinsCTTA
ENST00000510635.1:c.204-170_204-167delinsCTTA
ENST00000510955.5:n.429-170_429-167delinsCTTA
NM_000027.3:c.508-170_508-167delinsCTTA NP_000018.2:n.508-170_508-167delinsCTTA
NM_001171988.1:c.508-170_508-167delinsCTTA NP_001165459.1:n.508-170_508-167delinsCTTA
NR_033655.1:n.636-170_636-167delinsCTTA
XM_006714123.2:c.508-170_508-167delinsCTTA XP_006714186.1:n.508-170_508-167delinsCTTA
XR_001741155.2:n.602-170_602-167delinsCTTA
NM_000027.4:c.508-170_508-167delinsCTTA MANE Select NP_000018.2:n.508-170_508-167delinsCTTA
NM_001171988.2:c.508-170_508-167delinsCTTA NP_001165459.1:n.508-170_508-167delinsCTTA
NR_033655.2:n.570-170_570-167delinsCTTA