Canonical Allele Identifier: CA2574773465

Gene: SAA1

Linked Data

• gnomAD v4: 11-18269736-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269740_18269741del , CM000673.2:g.18269740_18269741del	GRCh38
NC_000011.9:g.18291287_18291288del , CM000673.1:g.18291287_18291288del	GRCh37
NC_000011.8:g.18247863_18247864del	NCBI36
NG_021330.1:g.8480_8481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*403_*404del	ENSP00000509190.1:n.*403_*404del
ENST00000356524.9:c.254_255del MANE Select	ENSP00000348918.4:p.Arg85IlefsTer12
ENST00000649195.1:c.*51_*52del	ENSP00000497498.1:n.*51_*52del
ENST00000356524.8:c.254_255del	ENSP00000348918.4:p.Arg85IlefsTer12
ENST00000405158.2:c.254_255del	ENSP00000384906.2:p.Arg85IlefsTer12
ENST00000532858.5:c.254_255del	ENSP00000436866.1:p.Arg85IlefsTer12
NM_000331.4:c.254_255del	NP_000322.2:p.Arg85IlefsTer12
NM_001178006.1:c.254_255del	NP_001171477.1:p.Arg85IlefsTer12
NM_199161.3:c.254_255del	NP_954630.1:p.Arg85IlefsTer12
NM_000331.5:c.254_255del	NP_000322.2:p.Arg85IlefsTer12
NM_001178006.2:c.254_255del	NP_001171477.1:p.Arg85IlefsTer12
NM_199161.4:c.254_255del	NP_954630.1:p.Arg85IlefsTer12
NM_199161.5:c.254_255del MANE Select	NP_954630.2:p.Arg85IlefsTer12
NM_000331.6:c.254_255del	NP_000322.3:p.Arg85IlefsTer12
NM_001178006.3:c.254_255del	NP_001171477.2:p.Arg85IlefsTer12