Canonical Allele Identifier: CA2764653746
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437615_177437616insCACACCC , CM000666.2:g.177437615_177437616insCACACCC GRCh38
NC_000004.11:g.178358769_178358770insCACACCC , CM000666.1:g.178358769_178358770insCACACCC GRCh37
NC_000004.10:g.178595763_178595764insCACACCC NCBI36
NG_011845.2:g.9888_9889insGGGTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-97_508-96insGGGTGTG MANE Select ENSP00000264595.2:n.508-97_508-96insGGGTGTG
ENST00000264595.6:c.508-97_508-96insGGGTGTG ENSP00000264595.2:n.508-97_508-96insGGGTGTG
ENST00000502310.5:c.163-97_163-96insGGGTGTG ENSP00000423798.1:n.163-97_163-96insGGGTGTG
ENST00000506853.5:n.542-97_542-96insGGGTGTG
ENST00000510635.1:c.204-97_204-96insGGGTGTG
ENST00000510955.5:n.429-97_429-96insGGGTGTG
NM_000027.3:c.508-97_508-96insGGGTGTG NP_000018.2:n.508-97_508-96insGGGTGTG
NM_001171988.1:c.508-97_508-96insGGGTGTG NP_001165459.1:n.508-97_508-96insGGGTGTG
NR_033655.1:n.636-97_636-96insGGGTGTG
XM_006714123.2:c.508-97_508-96insGGGTGTG XP_006714186.1:n.508-97_508-96insGGGTGTG
XR_001741155.2:n.602-97_602-96insGGGTGTG
NM_000027.4:c.508-97_508-96insGGGTGTG MANE Select NP_000018.2:n.508-97_508-96insGGGTGTG
NM_001171988.2:c.508-97_508-96insGGGTGTG NP_001165459.1:n.508-97_508-96insGGGTGTG
NR_033655.2:n.570-97_570-96insGGGTGTG