Canonical Allele Identifier: CA1515643646
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438850_177438853delinsTGTG , CM000666.2:g.177438850_177438853delinsTGTG GRCh38
NC_000004.11:g.178360004_178360007delinsTGTG , CM000666.1:g.178360004_178360007delinsTGTG GRCh37
NC_000004.10:g.178596998_178597001delinsTGTG NCBI36
NG_011845.2:g.8651_8654delinsCACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.399_402delinsCACA MANE Select ENSP00000264595.2:p.Thr133=
ENST00000264595.6:c.399_402delinsCACA ENSP00000264595.2:p.Thr133=
ENST00000502310.5:c.54_57delinsCACA ENSP00000423798.1:p.Thr18=
ENST00000506853.5:n.433_436delinsCACA
ENST00000510635.1:c.95_98delinsCACA
ENST00000510955.5:n.320_323delinsCACA
NM_000027.3:c.399_402delinsCACA NP_000018.2:p.Thr133=
NM_001171988.1:c.399_402delinsCACA NP_001165459.1:p.Thr133=
NR_033655.1:n.527_530delinsCACA
XM_006714123.2:c.399_402delinsCACA XP_006714186.1:p.Thr133=
XR_001741155.2:n.493_496delinsCACA
NM_000027.4:c.399_402delinsCACA MANE Select NP_000018.2:p.Thr133=
NM_001171988.2:c.399_402delinsCACA NP_001165459.1:p.Thr133=
NR_033655.2:n.461_464delinsCACA