Canonical Allele Identifier: CA2578238587

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442186del , CM000666.2:g.177442186del	GRCh38
NC_000004.11:g.178363340del , CM000666.1:g.178363340del	GRCh37
NC_000004.10:g.178600334del	NCBI36
NG_011845.2:g.5320del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.127+65del MANE Select	ENSP00000264595.2:n.127+65del
ENST00000264595.6:c.127+65del	ENSP00000264595.2:n.127+65del
ENST00000506853.5:n.161+65del
ENST00000510955.5:n.161+65del
ENST00000511231.1:n.161+65del
NM_000027.3:c.127+65del	NP_000018.2:n.127+65del
NM_001171988.1:c.127+65del	NP_001165459.1:n.127+65del
NR_033655.1:n.255+65del
XM_006714123.2:c.127+65del	XP_006714186.1:n.127+65del
XR_001741155.2:n.221+65del
NM_000027.4:c.127+65del MANE Select	NP_000018.2:n.127+65del
NM_001171988.2:c.127+65del	NP_001165459.1:n.127+65del
NR_033655.2:n.189+65del