Canonical Allele Identifier: CA1515643371
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438717_177438718delinsTA , CM000666.2:g.177438717_177438718delinsTA GRCh38
NC_000004.11:g.178359871_178359872delinsTA , CM000666.1:g.178359871_178359872delinsTA GRCh37
NC_000004.10:g.178596865_178596866delinsTA NCBI36
NG_011845.2:g.8786_8787delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.507+27_507+28delinsTA MANE Select ENSP00000264595.2:n.507+27_507+28delinsTA...
ENST00000264595.6:c.507+27_507+28delinsTA ENSP00000264595.2:n.507+27_507+28delinsTA...
ENST00000502310.5:c.162+27_162+28delinsTA ENSP00000423798.1:n.162+27_162+28delinsTA...
ENST00000506853.5:n.541+27_541+28delinsTA
ENST00000510635.1:c.203+27_203+28delinsTA
ENST00000510955.5:n.428+27_428+28delinsTA
NM_000027.3:c.507+27_507+28delinsTA NP_000018.2:n.507+27_507+28delinsTA
NM_001171988.1:c.507+27_507+28delinsTA NP_001165459.1:n.507+27_507+28delinsTA
NR_033655.1:n.635+27_635+28delinsTA
XM_006714123.2:c.507+27_507+28delinsTA XP_006714186.1:n.507+27_507+28delinsTA
XR_001741155.2:n.601+27_601+28delinsTA
NM_000027.4:c.507+27_507+28delinsTA MANE Select NP_000018.2:n.507+27_507+28delinsTA
NM_001171988.2:c.507+27_507+28delinsTA NP_001165459.1:n.507+27_507+28delinsTA
NR_033655.2:n.569+27_569+28delinsTA