Canonical Allele Identifier: CA1515646368
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440599_177440603delinsTTAAC , CM000666.2:g.177440599_177440603delinsTTAAC GRCh38
NC_000004.11:g.178361753_178361757delinsTTAAC , CM000666.1:g.178361753_178361757delinsTTAAC GRCh37
NC_000004.10:g.178598747_178598751delinsTTAAC NCBI36
NG_011845.2:g.6901_6905delinsGTTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-177_128-173delinsGTTAA MANE Select ENSP00000264595.2:n.128-177_128-173delinsGTTAA
ENST00000264595.6:c.128-177_128-173delinsGTTAA ENSP00000264595.2:n.128-177_128-173delinsGTTAA
ENST00000506853.5:n.162-177_162-173delinsGTTAA
ENST00000510955.5:n.162-177_162-173delinsGTTAA
ENST00000511231.1:n.162-177_162-173delinsGTTAA
NM_000027.3:c.128-177_128-173delinsGTTAA NP_000018.2:n.128-177_128-173delinsGTTAA
NM_001171988.1:c.128-177_128-173delinsGTTAA NP_001165459.1:n.128-177_128-173delinsGTTAA
NR_033655.1:n.256-177_256-173delinsGTTAA
XM_006714123.2:c.128-177_128-173delinsGTTAA XP_006714186.1:n.128-177_128-173delinsGTTAA
XR_001741155.2:n.222-177_222-173delinsGTTAA
NM_000027.4:c.128-177_128-173delinsGTTAA MANE Select NP_000018.2:n.128-177_128-173delinsGTTAA
NM_001171988.2:c.128-177_128-173delinsGTTAA NP_001165459.1:n.128-177_128-173delinsGTTAA
NR_033655.2:n.190-177_190-173delinsGTTAA