Canonical Allele Identifier: CA674302032

Gene: SAA1

Linked Data

• dbSNP Id: rs1385059266
• MyVariant Identifiers: chr11:g.18291046_18291049del (hg19) ; chr11:g.18269499_18269502del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269505_18269508del , CM000673.2:g.18269505_18269508del	GRCh38
NC_000011.9:g.18291052_18291055del , CM000673.1:g.18291052_18291055del	GRCh37
NC_000011.8:g.18247628_18247631del	NCBI36
NG_021330.1:g.8245_8248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*168_*171del	ENSP00000509190.1:n.*168_*171del
ENST00000356524.9:c.230+172_230+175del MANE Select	ENSP00000348918.4:n.230+172_230+175del
ENST00000649195.1:c.*27+141_*27+144del	ENSP00000497498.1:n.*27+141_*27+144del
ENST00000356524.8:c.230+172_230+175del	ENSP00000348918.4:n.230+172_230+175del
ENST00000405158.2:c.230+172_230+175del	ENSP00000384906.2:n.230+172_230+175del
ENST00000532858.5:c.230+172_230+175del	ENSP00000436866.1:n.230+172_230+175del
NM_000331.4:c.230+172_230+175del	NP_000322.2:n.230+172_230+175del
NM_001178006.1:c.230+172_230+175del	NP_001171477.1:n.230+172_230+175del
NM_199161.3:c.230+172_230+175del	NP_954630.1:n.230+172_230+175del
NM_000331.5:c.230+172_230+175del	NP_000322.2:n.230+172_230+175del
NM_001178006.2:c.230+172_230+175del	NP_001171477.1:n.230+172_230+175del
NM_199161.4:c.230+172_230+175del	NP_954630.1:n.230+172_230+175del
NM_199161.5:c.230+172_230+175del MANE Select	NP_954630.2:n.230+172_230+175del
NM_000331.6:c.230+172_230+175del	NP_000322.3:n.230+172_230+175del
NM_001178006.3:c.230+172_230+175del	NP_001171477.2:n.230+172_230+175del