Canonical Allele Identifier: CA218566547

Gene: SAA1

Linked Data

• dbSNP Id: rs879141095
• MyVariant Identifiers: chr11:g.18291259_18291260del (hg19) ; chr11:g.18269712_18269713del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269712_18269713del , CM000673.2:g.18269712_18269713del	GRCh38
NC_000011.9:g.18291259_18291260del , CM000673.1:g.18291259_18291260del	GRCh37
NC_000011.8:g.18247835_18247836del	NCBI36
NG_021330.1:g.8452_8453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*375_*376del	ENSP00000509190.1:n.*375_*376del
ENST00000356524.9:c.231-5_231-4del MANE Select	ENSP00000348918.4:n.231-5_231-4del
ENST00000649195.1:c.*28-5_*28-4del	ENSP00000497498.1:n.*28-5_*28-4del
ENST00000356524.8:c.231-5_231-4del	ENSP00000348918.4:n.231-5_231-4del
ENST00000405158.2:c.231-5_231-4del	ENSP00000384906.2:n.231-5_231-4del
ENST00000532858.5:c.231-5_231-4del	ENSP00000436866.1:n.231-5_231-4del
NM_000331.4:c.231-5_231-4del	NP_000322.2:n.231-5_231-4del
NM_001178006.1:c.231-5_231-4del	NP_001171477.1:n.231-5_231-4del
NM_199161.3:c.231-5_231-4del	NP_954630.1:n.231-5_231-4del
NM_000331.5:c.231-5_231-4del	NP_000322.2:n.231-5_231-4del
NM_001178006.2:c.231-5_231-4del	NP_001171477.1:n.231-5_231-4del
NM_199161.4:c.231-5_231-4del	NP_954630.1:n.231-5_231-4del
NM_199161.5:c.231-5_231-4del MANE Select	NP_954630.2:n.231-5_231-4del
NM_000331.6:c.231-5_231-4del	NP_000322.3:n.231-5_231-4del
NM_001178006.3:c.231-5_231-4del	NP_001171477.2:n.231-5_231-4del