Canonical Allele Identifier: CA597451084

Gene: SAA1

Linked Data

• dbSNP Id: rs1564912005
• gnomAD v2: 11-18290901-G-GCC
• gnomAD v4: 11-18269354-G-GCC
• MyVariant Identifiers: chr11:g.18290901_18290902insCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269354_18269355insCC , CM000673.2:g.18269354_18269355insCC	GRCh38
NC_000011.9:g.18290901_18290902insCC , CM000673.1:g.18290901_18290902insCC	GRCh37
NC_000011.8:g.18247477_18247478insCC	NCBI36
NG_021330.1:g.8094_8095insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*17_*18insCC	ENSP00000509190.1:n.*17_*18insCC
ENST00000356524.9:c.230+21_230+22insCC MANE Select	ENSP00000348918.4:n.230+21_230+22insCC
ENST00000649195.1:c.*17_*18insCC	ENSP00000497498.1:n.*17_*18insCC
ENST00000356524.8:c.230+21_230+22insCC	ENSP00000348918.4:n.230+21_230+22insCC
ENST00000405158.2:c.230+21_230+22insCC	ENSP00000384906.2:n.230+21_230+22insCC
ENST00000532858.5:c.230+21_230+22insCC	ENSP00000436866.1:n.230+21_230+22insCC
NM_000331.4:c.230+21_230+22insCC	NP_000322.2:n.230+21_230+22insCC
NM_001178006.1:c.230+21_230+22insCC	NP_001171477.1:n.230+21_230+22insCC
NM_199161.3:c.230+21_230+22insCC	NP_954630.1:n.230+21_230+22insCC
NM_000331.5:c.230+21_230+22insCC	NP_000322.2:n.230+21_230+22insCC
NM_001178006.2:c.230+21_230+22insCC	NP_001171477.1:n.230+21_230+22insCC
NM_199161.4:c.230+21_230+22insCC	NP_954630.1:n.230+21_230+22insCC
NM_199161.5:c.230+21_230+22insCC MANE Select	NP_954630.2:n.230+21_230+22insCC
NM_000331.6:c.230+21_230+22insCC	NP_000322.3:n.230+21_230+22insCC
NM_001178006.3:c.230+21_230+22insCC	NP_001171477.2:n.230+21_230+22insCC