Canonical Allele Identifier: CA1515637959
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434630_177434637delinsAGGTCTTC , CM000666.2:g.177434630_177434637delinsAGGTCTTC GRCh38
NC_000004.11:g.178355784_178355791delinsAGGTCTTC , CM000666.1:g.178355784_178355791delinsAGGTCTTC GRCh37
NC_000004.10:g.178592778_178592785delinsAGGTCTTC NCBI36
NG_011845.2:g.12867_12874delinsGAAGACCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.699-148_699-141delinsGAAGACCT MANE Select ENSP00000264595.2:n.699-148_699-141delinsGAAGACCT
ENST00000264595.6:c.699-148_699-141delinsGAAGACCT ENSP00000264595.2:n.699-148_699-141delinsGAAGACCT
ENST00000502310.5:c.278-156_278-149delinsGAAGACCT ENSP00000423798.1:n.278-156_278-149delinsGAAGACCT
ENST00000506853.5:n.657-148_657-141delinsGAAGACCT
ENST00000510635.1:c.373-156_373-149delinsGAAGACCT
NM_000027.3:c.699-148_699-141delinsGAAGACCT NP_000018.2:n.699-148_699-141delinsGAAGACCT
NM_001171988.1:c.677-156_677-149delinsGAAGACCT NP_001165459.1:n.677-156_677-149delinsGAAGACCT
NR_033655.1:n.751-148_751-141delinsGAAGACCT
XM_006714123.2:c.677-148_677-141delinsGAAGACCT XP_006714186.1:n.677-148_677-141delinsGAAGACCT
XR_001741155.2:n.771-148_771-141delinsGAAGACCT
NM_000027.4:c.699-148_699-141delinsGAAGACCT MANE Select NP_000018.2:n.699-148_699-141delinsGAAGACCT
NM_001171988.2:c.677-156_677-149delinsGAAGACCT NP_001165459.1:n.677-156_677-149delinsGAAGACCT
NR_033655.2:n.685-148_685-141delinsGAAGACCT