Canonical Allele Identifier: CA2552704595

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442243_177442244del , CM000666.2:g.177442243_177442244del	GRCh38
NC_000004.11:g.178363397_178363398del , CM000666.1:g.178363397_178363398del	GRCh37
NC_000004.10:g.178600391_178600392del	NCBI36
NG_011845.2:g.5261_5262del

Transcript Alleles

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