Canonical Allele Identifier: CA2707750121

Gene: AGA

Linked Data

• dbSNP Id: rs2111026064

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177441803del , CM000666.2:g.177441803del	GRCh38
NC_000004.11:g.178362957del , CM000666.1:g.178362957del	GRCh37
NC_000004.10:g.178599951del	NCBI36
NG_011845.2:g.5707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+452del MANE Select	ENSP00000264595.2:n.127+452del
ENST00000264595.6:c.127+452del	ENSP00000264595.2:n.127+452del
ENST00000506853.5:n.161+452del
ENST00000510955.5:n.161+452del
ENST00000511231.1:n.161+452del
NM_000027.3:c.127+452del	NP_000018.2:n.127+452del
NM_001171988.1:c.127+452del	NP_001165459.1:n.127+452del
NR_033655.1:n.255+452del
XM_006714123.2:c.127+452del	XP_006714186.1:n.127+452del
XR_001741155.2:n.221+452del
NM_000027.4:c.127+452del MANE Select	NP_000018.2:n.127+452del
NM_001171988.2:c.127+452del	NP_001165459.1:n.127+452del
NR_033655.2:n.189+452del