Canonical Allele Identifier: CA597451451

Gene: SAA1

Linked Data

• dbSNP Id: rs1218627794
• gnomAD v2: 11-18291424-CAGG-C
• gnomAD v4: 11-18269877-CAGG-C
• MyVariant Identifiers: chr11:g.18291425_18291427del (hg19) ; chr11:g.18269878_18269880del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269880_18269882del , CM000673.2:g.18269880_18269882del	GRCh38
NC_000011.9:g.18291427_18291429del , CM000673.1:g.18291427_18291429del	GRCh37
NC_000011.8:g.18248003_18248005del	NCBI36
NG_021330.1:g.8620_8622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*543_*545del	ENSP00000509190.1:n.*543_*545del
ENST00000356524.9:c.*25_*27del MANE Select	ENSP00000348918.4:n.*25_*27del
ENST00000649195.1:c.*191_*193del	ENSP00000497498.1:n.*191_*193del
ENST00000356524.8:c.*25_*27del	ENSP00000348918.4:n.*25_*27del
ENST00000405158.2:c.*25_*27del	ENSP00000384906.2:n.*25_*27del
ENST00000532858.5:c.*25_*27del	ENSP00000436866.1:n.*25_*27del
NM_000331.4:c.*25_*27del	NP_000322.2:n.*25_*27del
NM_001178006.1:c.*25_*27del	NP_001171477.1:n.*25_*27del
NM_199161.3:c.*25_*27del	NP_954630.1:n.*25_*27del
NM_000331.5:c.*25_*27del	NP_000322.2:n.*25_*27del
NM_001178006.2:c.*25_*27del	NP_001171477.1:n.*25_*27del
NM_199161.4:c.*25_*27del	NP_954630.1:n.*25_*27del
NM_199161.5:c.*25_*27del MANE Select	NP_954630.2:n.*25_*27del
NM_000331.6:c.*25_*27del	NP_000322.3:n.*25_*27del
NM_001178006.3:c.*25_*27del	NP_001171477.2:n.*25_*27del