Canonical Allele Identifier: CA1515643364
Gene: AGA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438715_177438718delinsCTTA , CM000666.2:g.177438715_177438718delinsCTTA GRCh38
NC_000004.11:g.178359869_178359872delinsCTTA , CM000666.1:g.178359869_178359872delinsCTTA GRCh37
NC_000004.10:g.178596863_178596866delinsCTTA NCBI36
NG_011845.2:g.8786_8789delinsTAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.507+27_507+30delinsTAAG MANE Select ENSP00000264595.2:n.507+27_507+30delinsTA...
ENST00000264595.6:c.507+27_507+30delinsTAAG ENSP00000264595.2:n.507+27_507+30delinsTA...
ENST00000502310.5:c.162+27_162+30delinsTAAG ENSP00000423798.1:n.162+27_162+30delinsTA...
ENST00000506853.5:n.541+27_541+30delinsTAAG
ENST00000510635.1:c.203+27_203+30delinsTAAG
ENST00000510955.5:n.428+27_428+30delinsTAAG
NM_000027.3:c.507+27_507+30delinsTAAG NP_000018.2:n.507+27_507+30delinsTAAG
NM_001171988.1:c.507+27_507+30delinsTAAG NP_001165459.1:n.507+27_507+30delinsTAAG
NR_033655.1:n.635+27_635+30delinsTAAG
XM_006714123.2:c.507+27_507+30delinsTAAG XP_006714186.1:n.507+27_507+30delinsTAAG
XR_001741155.2:n.601+27_601+30delinsTAAG
NM_000027.4:c.507+27_507+30delinsTAAG MANE Select NP_000018.2:n.507+27_507+30delinsTAAG
NM_001171988.2:c.507+27_507+30delinsTAAG NP_001165459.1:n.507+27_507+30delinsTAAG
NR_033655.2:n.569+27_569+30delinsTAAG
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