Canonical Allele Identifier: CA935588966

Gene: SAA1

Linked Data

• gnomAD v3: 11-18269927-G-GAAGCTGAGATAT
• gnomAD v4: 11-18269927-G-GAAGCTGAGATAT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269927_18269928insAAGCTGAGATAT , CM000673.2:g.18269927_18269928insAAGCTGAGATAT	GRCh38
NC_000011.9:g.18291474_18291475insAAGCTGAGATAT , CM000673.1:g.18291474_18291475insAAGCTGAGATAT	GRCh37
NC_000011.8:g.18248050_18248051insAAGCTGAGATAT	NCBI36
NG_021330.1:g.8667_8668insAAGCTGAGATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.*590_*591insAAGCTGAGATAT	ENSP00000509190.1:n.*590_*591insAAGCTGAGATAT
ENST00000356524.9:c.*72_*73insAAGCTGAGATAT MANE Select	ENSP00000348918.4:n.*72_*73insAAGCTGAGATAT
ENST00000649195.1:c.*238_*239insAAGCTGAGATAT	ENSP00000497498.1:n.*238_*239insAAGCTGAGATAT
ENST00000356524.8:c.*72_*73insAAGCTGAGATAT	ENSP00000348918.4:n.*72_*73insAAGCTGAGATAT
ENST00000405158.2:c.*72_*73insAAGCTGAGATAT	ENSP00000384906.2:n.*72_*73insAAGCTGAGATAT
ENST00000532858.5:c.*72_*73insAAGCTGAGATAT	ENSP00000436866.1:n.*72_*73insAAGCTGAGATAT
NM_000331.4:c.*72_*73insAAGCTGAGATAT	NP_000322.2:n.*72_*73insAAGCTGAGATAT
NM_001178006.1:c.*72_*73insAAGCTGAGATAT	NP_001171477.1:n.*72_*73insAAGCTGAGATAT
NM_199161.3:c.*72_*73insAAGCTGAGATAT	NP_954630.1:n.*72_*73insAAGCTGAGATAT
NM_000331.5:c.*72_*73insAAGCTGAGATAT	NP_000322.2:n.*72_*73insAAGCTGAGATAT
NM_001178006.2:c.*72_*73insAAGCTGAGATAT	NP_001171477.1:n.*72_*73insAAGCTGAGATAT
NM_199161.4:c.*72_*73insAAGCTGAGATAT	NP_954630.1:n.*72_*73insAAGCTGAGATAT
NM_199161.5:c.*72_*73insAAGCTGAGATAT MANE Select	NP_954630.2:n.*72_*73insAAGCTGAGATAT
NM_000331.6:c.*72_*73insAAGCTGAGATAT	NP_000322.3:n.*72_*73insAAGCTGAGATAT
NM_001178006.3:c.*72_*73insAAGCTGAGATAT	NP_001171477.2:n.*72_*73insAAGCTGAGATAT