Canonical Allele Identifier: CA5909461

Gene: SAA1

Linked Data

• dbSNP Id: rs771682268
• ExAC: 11:18290803 C / CAAA
• gnomAD v2: 11-18290803-C-CAAA
• gnomAD v4: 11-18269256-C-CAAA
• MyVariant Identifiers: chr11:g.18290803_18290804insAAA (hg19) ; chr11:g.18269256_18269257insAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18269257_18269259dup , CM000673.2:g.18269257_18269259dup	GRCh38
NC_000011.9:g.18290804_18290806dup , CM000673.1:g.18290804_18290806dup	GRCh37
NC_000011.8:g.18247380_18247382dup	NCBI36
NG_021330.1:g.7997_7999dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689650.1:c.154_156dup	ENSP00000509190.1:p.Lys52_Tyr53insLys
ENST00000356524.9:c.154_156dup MANE Select	ENSP00000348918.4:p.Lys52_Tyr53insLys
ENST00000649195.1:c.154_156dup	ENSP00000497498.1:p.Lys52_Tyr53insLys
ENST00000356524.8:c.154_156dup	ENSP00000348918.4:p.Lys52_Tyr53insLys
ENST00000405158.2:c.154_156dup	ENSP00000384906.2:p.Lys52_Tyr53insLys
ENST00000532858.5:c.154_156dup	ENSP00000436866.1:p.Lys52_Tyr53insLys
NM_000331.4:c.154_156dup	NP_000322.2:p.Lys52_Tyr53insLys
NM_001178006.1:c.154_156dup	NP_001171477.1:p.Lys52_Tyr53insLys
NM_199161.3:c.154_156dup	NP_954630.1:p.Lys52_Tyr53insLys
NM_000331.5:c.154_156dup	NP_000322.2:p.Lys52_Tyr53insLys
NM_001178006.2:c.154_156dup	NP_001171477.1:p.Lys52_Tyr53insLys
NM_199161.4:c.154_156dup	NP_954630.1:p.Lys52_Tyr53insLys
NM_199161.5:c.154_156dup MANE Select	NP_954630.2:p.Lys52_Tyr53insLys
NM_000331.6:c.154_156dup	NP_000322.3:p.Lys52_Tyr53insLys
NM_001178006.3:c.154_156dup	NP_001171477.2:p.Lys52_Tyr53insLys