Canonical Allele Identifier: CA1515646421
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1736969657

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440650_177440651insT , CM000666.2:g.177440650_177440651insT GRCh38
NC_000004.11:g.178361804_178361805insT , CM000666.1:g.178361804_178361805insT GRCh37
NC_000004.10:g.178598798_178598799insT NCBI36
NG_011845.2:g.6853_6854insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-225_128-224insA MANE Select ENSP00000264595.2:n.128-225_128-224insA
ENST00000264595.6:c.128-225_128-224insA ENSP00000264595.2:n.128-225_128-224insA
ENST00000506853.5:n.162-225_162-224insA
ENST00000510955.5:n.162-225_162-224insA
ENST00000511231.1:n.162-225_162-224insA
NM_000027.3:c.128-225_128-224insA NP_000018.2:n.128-225_128-224insA
NM_001171988.1:c.128-225_128-224insA NP_001165459.1:n.128-225_128-224insA
NR_033655.1:n.256-225_256-224insA
XM_006714123.2:c.128-225_128-224insA XP_006714186.1:n.128-225_128-224insA
XR_001741155.2:n.222-225_222-224insA
NM_000027.4:c.128-225_128-224insA MANE Select NP_000018.2:n.128-225_128-224insA
NM_001171988.2:c.128-225_128-224insA NP_001165459.1:n.128-225_128-224insA
NR_033655.2:n.190-225_190-224insA