Canonical Allele Identifier: CA1515642219
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437684_177437689delinsAATAAG , CM000666.2:g.177437684_177437689delinsAATAAG GRCh38
NC_000004.11:g.178358838_178358843delinsAATAAG , CM000666.1:g.178358838_178358843delinsAATAAG GRCh37
NC_000004.10:g.178595832_178595837delinsAATAAG NCBI36
NG_011845.2:g.9815_9820delinsCTTATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-170_508-165delinsCTTATT MANE Select ENSP00000264595.2:n.508-170_508-165delinsCTTATT
ENST00000264595.6:c.508-170_508-165delinsCTTATT ENSP00000264595.2:n.508-170_508-165delinsCTTATT
ENST00000502310.5:c.163-170_163-165delinsCTTATT ENSP00000423798.1:n.163-170_163-165delinsCTTATT
ENST00000506853.5:n.542-170_542-165delinsCTTATT
ENST00000510635.1:c.204-170_204-165delinsCTTATT
ENST00000510955.5:n.429-170_429-165delinsCTTATT
NM_000027.3:c.508-170_508-165delinsCTTATT NP_000018.2:n.508-170_508-165delinsCTTATT
NM_001171988.1:c.508-170_508-165delinsCTTATT NP_001165459.1:n.508-170_508-165delinsCTTATT
NR_033655.1:n.636-170_636-165delinsCTTATT
XM_006714123.2:c.508-170_508-165delinsCTTATT XP_006714186.1:n.508-170_508-165delinsCTTATT
XR_001741155.2:n.602-170_602-165delinsCTTATT
NM_000027.4:c.508-170_508-165delinsCTTATT MANE Select NP_000018.2:n.508-170_508-165delinsCTTATT
NM_001171988.2:c.508-170_508-165delinsCTTATT NP_001165459.1:n.508-170_508-165delinsCTTATT
NR_033655.2:n.570-170_570-165delinsCTTATT