Canonical Allele Identifier: CA1515637948
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434620_177434624delinsAAGAC , CM000666.2:g.177434620_177434624delinsAAGAC GRCh38
NC_000004.11:g.178355774_178355778delinsAAGAC , CM000666.1:g.178355774_178355778delinsAAGAC GRCh37
NC_000004.10:g.178592768_178592772delinsAAGAC NCBI36
NG_011845.2:g.12880_12884delinsGTCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.699-135_699-131delinsGTCTT MANE Select ENSP00000264595.2:n.699-135_699-131delinsGTCTT
ENST00000264595.6:c.699-135_699-131delinsGTCTT ENSP00000264595.2:n.699-135_699-131delinsGTCTT
ENST00000502310.5:c.278-143_278-139delinsGTCTT ENSP00000423798.1:n.278-143_278-139delinsGTCTT
ENST00000506853.5:n.657-135_657-131delinsGTCTT
ENST00000510635.1:c.373-143_373-139delinsGTCTT
NM_000027.3:c.699-135_699-131delinsGTCTT NP_000018.2:n.699-135_699-131delinsGTCTT
NM_001171988.1:c.677-143_677-139delinsGTCTT NP_001165459.1:n.677-143_677-139delinsGTCTT
NR_033655.1:n.751-135_751-131delinsGTCTT
XM_006714123.2:c.677-135_677-131delinsGTCTT XP_006714186.1:n.677-135_677-131delinsGTCTT
XR_001741155.2:n.771-135_771-131delinsGTCTT
NM_000027.4:c.699-135_699-131delinsGTCTT MANE Select NP_000018.2:n.699-135_699-131delinsGTCTT
NM_001171988.2:c.677-143_677-139delinsGTCTT NP_001165459.1:n.677-143_677-139delinsGTCTT
NR_033655.2:n.685-135_685-131delinsGTCTT