Canonical Allele Identifier: CA1515648865

Gene: AGA

Linked Data

• dbSNP Id: rs1737048102

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442172_177442181del , CM000666.2:g.177442172_177442181del	GRCh38
NC_000004.11:g.178363326_178363335del , CM000666.1:g.178363326_178363335del	GRCh37
NC_000004.10:g.178600320_178600329del	NCBI36
NG_011845.2:g.5323_5332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+68_127+77del MANE Select	ENSP00000264595.2:n.127+68_127+77del
ENST00000264595.6:c.127+68_127+77del	ENSP00000264595.2:n.127+68_127+77del
ENST00000506853.5:n.161+68_161+77del
ENST00000510955.5:n.161+68_161+77del
ENST00000511231.1:n.161+68_161+77del
NM_000027.3:c.127+68_127+77del	NP_000018.2:n.127+68_127+77del
NM_001171988.1:c.127+68_127+77del	NP_001165459.1:n.127+68_127+77del
NR_033655.1:n.255+68_255+77del
XM_006714123.2:c.127+68_127+77del	XP_006714186.1:n.127+68_127+77del
XR_001741155.2:n.221+68_221+77del
NM_000027.4:c.127+68_127+77del MANE Select	NP_000018.2:n.127+68_127+77del
NM_001171988.2:c.127+68_127+77del	NP_001165459.1:n.127+68_127+77del
NR_033655.2:n.189+68_189+77del