Canonical Allele Identifier: CA935588733

Gene: SAA1

Linked Data

• dbSNP Id: rs1858153094
• gnomAD v3: 11-18269453-CCTCT-C
• gnomAD v4: 11-18269453-CCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269458_18269461del , CM000673.2:g.18269458_18269461del	GRCh38
NC_000011.9:g.18291005_18291008del , CM000673.1:g.18291005_18291008del	GRCh37
NC_000011.8:g.18247581_18247584del	NCBI36
NG_021330.1:g.8198_8201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*121_*124del	ENSP00000509190.1:n.*121_*124del
ENST00000356524.9:c.230+125_230+128del MANE Select	ENSP00000348918.4:n.230+125_230+128del
ENST00000649195.1:c.*27+94_*27+97del	ENSP00000497498.1:n.*27+94_*27+97del
ENST00000356524.8:c.230+125_230+128del	ENSP00000348918.4:n.230+125_230+128del
ENST00000405158.2:c.230+125_230+128del	ENSP00000384906.2:n.230+125_230+128del
ENST00000532858.5:c.230+125_230+128del	ENSP00000436866.1:n.230+125_230+128del
NM_000331.4:c.230+125_230+128del	NP_000322.2:n.230+125_230+128del
NM_001178006.1:c.230+125_230+128del	NP_001171477.1:n.230+125_230+128del
NM_199161.3:c.230+125_230+128del	NP_954630.1:n.230+125_230+128del
NM_000331.5:c.230+125_230+128del	NP_000322.2:n.230+125_230+128del
NM_001178006.2:c.230+125_230+128del	NP_001171477.1:n.230+125_230+128del
NM_199161.4:c.230+125_230+128del	NP_954630.1:n.230+125_230+128del
NM_199161.5:c.230+125_230+128del MANE Select	NP_954630.2:n.230+125_230+128del
NM_000331.6:c.230+125_230+128del	NP_000322.3:n.230+125_230+128del
NM_001178006.3:c.230+125_230+128del	NP_001171477.2:n.230+125_230+128del