Canonical Allele Identifier: CA1515649499
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442347_177442348delinsAG , CM000666.2:g.177442347_177442348delinsAG GRCh38
NC_000004.11:g.178363501_178363502delinsAG , CM000666.1:g.178363501_178363502delinsAG GRCh37
NC_000004.10:g.178600495_178600496delinsAG NCBI36
NG_011845.2:g.5156_5157delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.28_29delinsCT MANE Select ENSP00000264595.2:p.Leu10=
ENST00000264595.6:c.28_29delinsCT ENSP00000264595.2:p.Leu10=
ENST00000506853.5:n.62_63delinsCT
ENST00000510955.5:n.62_63delinsCT
ENST00000511231.1:n.62_63delinsCT
NM_000027.3:c.28_29delinsCT NP_000018.2:p.Leu10=
NM_001171988.1:c.28_29delinsCT NP_001165459.1:p.Leu10=
NR_033655.1:n.156_157delinsCT
XM_006714123.2:c.28_29delinsCT XP_006714186.1:p.Leu10=
XR_001741155.2:n.122_123delinsCT
NM_000027.4:c.28_29delinsCT MANE Select NP_000018.2:p.Leu10=
NM_001171988.2:c.28_29delinsCT NP_001165459.1:p.Leu10=
NR_033655.2:n.90_91delinsCT