Canonical Allele Identifier: CA1515644670
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439593_177439594delinsAG , CM000666.2:g.177439593_177439594delinsAG GRCh38
NC_000004.11:g.178360747_178360748delinsAG , CM000666.1:g.178360747_178360748delinsAG GRCh37
NC_000004.10:g.178597741_178597742delinsAG NCBI36
NG_011845.2:g.7910_7911delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.376_377delinsCT MANE Select ENSP00000264595.2:p.Leu126=
ENST00000264595.6:c.376_377delinsCT ENSP00000264595.2:p.Leu126=
ENST00000502310.5:c.31_32delinsCT ENSP00000423798.1:p.Leu11=
ENST00000506853.5:n.410_411delinsCT
ENST00000510635.1:c.72_73delinsCT
ENST00000510955.5:n.315+679_315+680delinsCT
NM_000027.3:c.376_377delinsCT NP_000018.2:p.Leu126=
NM_001171988.1:c.376_377delinsCT NP_001165459.1:p.Leu126=
NR_033655.1:n.504_505delinsCT
XM_006714123.2:c.376_377delinsCT XP_006714186.1:p.Leu126=
XR_001741155.2:n.470_471delinsCT
NM_000027.4:c.376_377delinsCT MANE Select NP_000018.2:p.Leu126=
NM_001171988.2:c.376_377delinsCT NP_001165459.1:p.Leu126=
NR_033655.2:n.438_439delinsCT