Canonical Allele Identifier: CA1515645045
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439719_177439722delinsAAGG , CM000666.2:g.177439719_177439722delinsAAGG GRCh38
NC_000004.11:g.178360873_178360876delinsAAGG , CM000666.1:g.178360873_178360876delinsAAGG GRCh37
NC_000004.10:g.178597867_178597870delinsAAGG NCBI36
NG_011845.2:g.7782_7785delinsCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.282-34_282-31delinsCCTT MANE Select ENSP00000264595.2:n.282-34_282-31delinsCCTT
ENST00000264595.6:c.282-34_282-31delinsCCTT ENSP00000264595.2:n.282-34_282-31delinsCCTT
ENST00000506853.5:n.316-34_316-31delinsCCTT
ENST00000510955.5:n.315+551_315+554delinsCCTT
NM_000027.3:c.282-34_282-31delinsCCTT NP_000018.2:n.282-34_282-31delinsCCTT
NM_001171988.1:c.282-34_282-31delinsCCTT NP_001165459.1:n.282-34_282-31delinsCCTT
NR_033655.1:n.410-34_410-31delinsCCTT
XM_006714123.2:c.282-34_282-31delinsCCTT XP_006714186.1:n.282-34_282-31delinsCCTT
XR_001741155.2:n.376-34_376-31delinsCCTT
NM_000027.4:c.282-34_282-31delinsCCTT MANE Select NP_000018.2:n.282-34_282-31delinsCCTT
NM_001171988.2:c.282-34_282-31delinsCCTT NP_001165459.1:n.282-34_282-31delinsCCTT
NR_033655.2:n.344-34_344-31delinsCCTT