Canonical Allele Identifier: CA1515641885
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437468_177437472delinsTACCA , CM000666.2:g.177437468_177437472delinsTACCA GRCh38
NC_000004.11:g.178358622_178358626delinsTACCA , CM000666.1:g.178358622_178358626delinsTACCA GRCh37
NC_000004.10:g.178595616_178595620delinsTACCA NCBI36
NG_011845.2:g.10032_10036delinsTGGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.555_559delinsTGGTA MANE Select ENSP00000264595.2:p.Pro185=
ENST00000264595.6:c.555_559delinsTGGTA ENSP00000264595.2:p.Pro185=
ENST00000502310.5:c.210_214delinsTGGTA ENSP00000423798.1:p.Pro70=
ENST00000506853.5:n.589_593delinsTGGTA
ENST00000510635.1:c.251_255delinsTGGTA
ENST00000510955.5:n.476_480delinsTGGTA
NM_000027.3:c.555_559delinsTGGTA NP_000018.2:p.Pro185=
NM_001171988.1:c.555_559delinsTGGTA NP_001165459.1:p.Pro185=
NR_033655.1:n.683_687delinsTGGTA
XM_006714123.2:c.555_559delinsTGGTA XP_006714186.1:p.Pro185=
XR_001741155.2:n.649_653delinsTGGTA
NM_000027.4:c.555_559delinsTGGTA MANE Select NP_000018.2:p.Pro185=
NM_001171988.2:c.555_559delinsTGGTA NP_001165459.1:p.Pro185=
NR_033655.2:n.617_621delinsTGGTA