Canonical Allele Identifier: CA1515648166

Gene: AGA

Linked Data

• dbSNP Id: rs1737023782

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177441829_177441830del , CM000666.2:g.177441829_177441830del	GRCh38
NC_000004.11:g.178362983_178362984del , CM000666.1:g.178362983_178362984del	GRCh37
NC_000004.10:g.178599977_178599978del	NCBI36
NG_011845.2:g.5674_5675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+419_127+420del MANE Select	ENSP00000264595.2:n.127+419_127+420del
ENST00000264595.6:c.127+419_127+420del	ENSP00000264595.2:n.127+419_127+420del
ENST00000506853.5:n.161+419_161+420del
ENST00000510955.5:n.161+419_161+420del
ENST00000511231.1:n.161+419_161+420del
NM_000027.3:c.127+419_127+420del	NP_000018.2:n.127+419_127+420del
NM_001171988.1:c.127+419_127+420del	NP_001165459.1:n.127+419_127+420del
NR_033655.1:n.255+419_255+420del
XM_006714123.2:c.127+419_127+420del	XP_006714186.1:n.127+419_127+420del
XR_001741155.2:n.221+419_221+420del
NM_000027.4:c.127+419_127+420del MANE Select	NP_000018.2:n.127+419_127+420del
NM_001171988.2:c.127+419_127+420del	NP_001165459.1:n.127+419_127+420del
NR_033655.2:n.189+419_189+420del