Canonical Allele Identifier: CA1515642194
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437665_177437667delinsTAA , CM000666.2:g.177437665_177437667delinsTAA GRCh38
NC_000004.11:g.178358819_178358821delinsTAA , CM000666.1:g.178358819_178358821delinsTAA GRCh37
NC_000004.10:g.178595813_178595815delinsTAA NCBI36
NG_011845.2:g.9837_9839delinsTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-148_508-146delinsTTA MANE Select ENSP00000264595.2:n.508-148_508-146delinsTTA
ENST00000264595.6:c.508-148_508-146delinsTTA ENSP00000264595.2:n.508-148_508-146delinsTTA
ENST00000502310.5:c.163-148_163-146delinsTTA ENSP00000423798.1:n.163-148_163-146delinsTTA
ENST00000506853.5:n.542-148_542-146delinsTTA
ENST00000510635.1:c.204-148_204-146delinsTTA
ENST00000510955.5:n.429-148_429-146delinsTTA
NM_000027.3:c.508-148_508-146delinsTTA NP_000018.2:n.508-148_508-146delinsTTA
NM_001171988.1:c.508-148_508-146delinsTTA NP_001165459.1:n.508-148_508-146delinsTTA
NR_033655.1:n.636-148_636-146delinsTTA
XM_006714123.2:c.508-148_508-146delinsTTA XP_006714186.1:n.508-148_508-146delinsTTA
XR_001741155.2:n.602-148_602-146delinsTTA
NM_000027.4:c.508-148_508-146delinsTTA MANE Select NP_000018.2:n.508-148_508-146delinsTTA
NM_001171988.2:c.508-148_508-146delinsTTA NP_001165459.1:n.508-148_508-146delinsTTA
NR_033655.2:n.570-148_570-146delinsTTA