Canonical Allele Identifier: CA2526066600
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440772_177440773insGG , CM000666.2:g.177440772_177440773insGG GRCh38
NC_000004.11:g.178361926_178361927insGG , CM000666.1:g.178361926_178361927insGG GRCh37
NC_000004.10:g.178598920_178598921insGG NCBI36
NG_011845.2:g.6731_6732insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-347_128-346insCC MANE Select ENSP00000264595.2:n.128-347_128-346insCC
ENST00000264595.6:c.128-347_128-346insCC ENSP00000264595.2:n.128-347_128-346insCC
ENST00000506853.5:n.162-347_162-346insCC
ENST00000510955.5:n.162-347_162-346insCC
ENST00000511231.1:n.162-347_162-346insCC
NM_000027.3:c.128-347_128-346insCC NP_000018.2:n.128-347_128-346insCC
NM_001171988.1:c.128-347_128-346insCC NP_001165459.1:n.128-347_128-346insCC
NR_033655.1:n.256-347_256-346insCC
XM_006714123.2:c.128-347_128-346insCC XP_006714186.1:n.128-347_128-346insCC
XR_001741155.2:n.222-347_222-346insCC
NM_000027.4:c.128-347_128-346insCC MANE Select NP_000018.2:n.128-347_128-346insCC
NM_001171988.2:c.128-347_128-346insCC NP_001165459.1:n.128-347_128-346insCC
NR_033655.2:n.190-347_190-346insCC