Canonical Allele Identifier: CA1515649000

Gene: AGA

Linked Data

• dbSNP Id: rs1737051927

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442215_177442226del , CM000666.2:g.177442215_177442226del	GRCh38
NC_000004.11:g.178363369_178363380del , CM000666.1:g.178363369_178363380del	GRCh37
NC_000004.10:g.178600363_178600374del	NCBI36
NG_011845.2:g.5279_5290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+24_127+35del MANE Select	ENSP00000264595.2:n.127+24_127+35del
ENST00000264595.6:c.127+24_127+35del	ENSP00000264595.2:n.127+24_127+35del
ENST00000506853.5:n.161+24_161+35del
ENST00000510955.5:n.161+24_161+35del
ENST00000511231.1:n.161+24_161+35del
NM_000027.3:c.127+24_127+35del	NP_000018.2:n.127+24_127+35del
NM_001171988.1:c.127+24_127+35del	NP_001165459.1:n.127+24_127+35del
NR_033655.1:n.255+24_255+35del
XM_006714123.2:c.127+24_127+35del	XP_006714186.1:n.127+24_127+35del
XR_001741155.2:n.221+24_221+35del
NM_000027.4:c.127+24_127+35del MANE Select	NP_000018.2:n.127+24_127+35del
NM_001171988.2:c.127+24_127+35del	NP_001165459.1:n.127+24_127+35del
NR_033655.2:n.189+24_189+35del