Canonical Allele Identifier: CA1515643374
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438718_177438719delinsAT , CM000666.2:g.177438718_177438719delinsAT GRCh38
NC_000004.11:g.178359872_178359873delinsAT , CM000666.1:g.178359872_178359873delinsAT GRCh37
NC_000004.10:g.178596866_178596867delinsAT NCBI36
NG_011845.2:g.8785_8786delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.507+26_507+27delinsAT MANE Select ENSP00000264595.2:n.507+26_507+27delinsAT...
ENST00000264595.6:c.507+26_507+27delinsAT ENSP00000264595.2:n.507+26_507+27delinsAT...
ENST00000502310.5:c.162+26_162+27delinsAT ENSP00000423798.1:n.162+26_162+27delinsAT...
ENST00000506853.5:n.541+26_541+27delinsAT
ENST00000510635.1:c.203+26_203+27delinsAT
ENST00000510955.5:n.428+26_428+27delinsAT
NM_000027.3:c.507+26_507+27delinsAT NP_000018.2:n.507+26_507+27delinsAT
NM_001171988.1:c.507+26_507+27delinsAT NP_001165459.1:n.507+26_507+27delinsAT
NR_033655.1:n.635+26_635+27delinsAT
XM_006714123.2:c.507+26_507+27delinsAT XP_006714186.1:n.507+26_507+27delinsAT
XR_001741155.2:n.601+26_601+27delinsAT
NM_000027.4:c.507+26_507+27delinsAT MANE Select NP_000018.2:n.507+26_507+27delinsAT
NM_001171988.2:c.507+26_507+27delinsAT NP_001165459.1:n.507+26_507+27delinsAT
NR_033655.2:n.569+26_569+27delinsAT