Canonical Allele Identifier: CA1515646323
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440550_177440553delinsCATT , CM000666.2:g.177440550_177440553delinsCATT GRCh38
NC_000004.11:g.178361704_178361707delinsCATT , CM000666.1:g.178361704_178361707delinsCATT GRCh37
NC_000004.10:g.178598698_178598701delinsCATT NCBI36
NG_011845.2:g.6951_6954delinsAATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-127_128-124delinsAATG MANE Select ENSP00000264595.2:n.128-127_128-124delinsAATG
ENST00000264595.6:c.128-127_128-124delinsAATG ENSP00000264595.2:n.128-127_128-124delinsAATG
ENST00000506853.5:n.162-127_162-124delinsAATG
ENST00000510955.5:n.162-127_162-124delinsAATG
ENST00000511231.1:n.162-127_162-124delinsAATG
NM_000027.3:c.128-127_128-124delinsAATG NP_000018.2:n.128-127_128-124delinsAATG
NM_001171988.1:c.128-127_128-124delinsAATG NP_001165459.1:n.128-127_128-124delinsAATG
NR_033655.1:n.256-127_256-124delinsAATG
XM_006714123.2:c.128-127_128-124delinsAATG XP_006714186.1:n.128-127_128-124delinsAATG
XR_001741155.2:n.222-127_222-124delinsAATG
NM_000027.4:c.128-127_128-124delinsAATG MANE Select NP_000018.2:n.128-127_128-124delinsAATG
NM_001171988.2:c.128-127_128-124delinsAATG NP_001165459.1:n.128-127_128-124delinsAATG
NR_033655.2:n.190-127_190-124delinsAATG