Canonical Allele Identifier: CA1515649124

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442247_177442248delinsAC , CM000666.2:g.177442247_177442248delinsAC	GRCh38
NC_000004.11:g.178363401_178363402delinsAC , CM000666.1:g.178363401_178363402delinsAC	GRCh37
NC_000004.10:g.178600395_178600396delinsAC	NCBI36
NG_011845.2:g.5256_5257delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.127+1_127+2delinsGT MANE Select	ENSP00000264595.2:n.127+1_127+2delinsGT
ENST00000264595.6:c.127+1_127+2delinsGT	ENSP00000264595.2:n.127+1_127+2delinsGT
ENST00000506853.5:n.161+1_161+2delinsGT
ENST00000510955.5:n.161+1_161+2delinsGT
ENST00000511231.1:n.161+1_161+2delinsGT
NM_000027.3:c.127+1_127+2delinsGT	NP_000018.2:n.127+1_127+2delinsGT
NM_001171988.1:c.127+1_127+2delinsGT	NP_001165459.1:n.127+1_127+2delinsGT
NR_033655.1:n.255+1_255+2delinsGT
XM_006714123.2:c.127+1_127+2delinsGT	XP_006714186.1:n.127+1_127+2delinsGT
XR_001741155.2:n.221+1_221+2delinsGT
NM_000027.4:c.127+1_127+2delinsGT MANE Select	NP_000018.2:n.127+1_127+2delinsGT
NM_001171988.2:c.127+1_127+2delinsGT	NP_001165459.1:n.127+1_127+2delinsGT
NR_033655.2:n.189+1_189+2delinsGT