Canonical Allele Identifier: CA597451044

Gene: SAA1

Linked Data

• dbSNP Id: rs1314276019
• gnomAD v2: 11-18290851-TG-T
• gnomAD v4: 11-18269304-TG-T
• MyVariant Identifiers: chr11:g.18290852del (hg19) ; chr11:g.18269305del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269309del , CM000673.2:g.18269309del	GRCh38
NC_000011.9:g.18290856del , CM000673.1:g.18290856del	GRCh37
NC_000011.8:g.18247432del	NCBI36
NG_021330.1:g.8049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.206del	ENSP00000509190.1:p.Gly69ValfsTer7
ENST00000356524.9:c.206del MANE Select	ENSP00000348918.4:p.Gly69ValfsTer7
ENST00000649195.1:c.206del	ENSP00000497498.1:p.Gly69ValfsTer7
ENST00000356524.8:c.206del	ENSP00000348918.4:p.Gly69ValfsTer7
ENST00000405158.2:c.206del	ENSP00000384906.2:p.Gly69ValfsTer7
ENST00000532858.5:c.206del	ENSP00000436866.1:p.Gly69ValfsTer7
NM_000331.4:c.206del	NP_000322.2:p.Gly69ValfsTer7
NM_001178006.1:c.206del	NP_001171477.1:p.Gly69ValfsTer7
NM_199161.3:c.206del	NP_954630.1:p.Gly69ValfsTer7
NM_000331.5:c.206del	NP_000322.2:p.Gly69ValfsTer7
NM_001178006.2:c.206del	NP_001171477.1:p.Gly69ValfsTer7
NM_199161.4:c.206del	NP_954630.1:p.Gly69ValfsTer7
NM_199161.5:c.206del MANE Select	NP_954630.2:p.Gly69ValfsTer7
NM_000331.6:c.206del	NP_000322.3:p.Gly69ValfsTer7
NM_001178006.3:c.206del	NP_001171477.2:p.Gly69ValfsTer7