Canonical Allele Identifier: CA1515637945
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434616_177434624delinsAACAAAGAC , CM000666.2:g.177434616_177434624delinsAACAAAGAC GRCh38
NC_000004.11:g.178355770_178355778delinsAACAAAGAC , CM000666.1:g.178355770_178355778delinsAACAAAGAC GRCh37
NC_000004.10:g.178592764_178592772delinsAACAAAGAC NCBI36
NG_011845.2:g.12880_12888delinsGTCTTTGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.699-135_699-127delinsGTCTTTGTT MANE Select ENSP00000264595.2:n.699-135_699-127delinsGTCTTTGTT
ENST00000264595.6:c.699-135_699-127delinsGTCTTTGTT ENSP00000264595.2:n.699-135_699-127delinsGTCTTTGTT
ENST00000502310.5:c.278-143_278-135delinsGTCTTTGTT ENSP00000423798.1:n.278-143_278-135delinsGTCTTTGTT
ENST00000506853.5:n.657-135_657-127delinsGTCTTTGTT
ENST00000510635.1:c.373-143_373-135delinsGTCTTTGTT
NM_000027.3:c.699-135_699-127delinsGTCTTTGTT NP_000018.2:n.699-135_699-127delinsGTCTTTGTT
NM_001171988.1:c.677-143_677-135delinsGTCTTTGTT NP_001165459.1:n.677-143_677-135delinsGTCTTTGTT
NR_033655.1:n.751-135_751-127delinsGTCTTTGTT
XM_006714123.2:c.677-135_677-127delinsGTCTTTGTT XP_006714186.1:n.677-135_677-127delinsGTCTTTGTT
XR_001741155.2:n.771-135_771-127delinsGTCTTTGTT
NM_000027.4:c.699-135_699-127delinsGTCTTTGTT MANE Select NP_000018.2:n.699-135_699-127delinsGTCTTTGTT
NM_001171988.2:c.677-143_677-135delinsGTCTTTGTT NP_001165459.1:n.677-143_677-135delinsGTCTTTGTT
NR_033655.2:n.685-135_685-127delinsGTCTTTGTT