Canonical Allele Identifier: CA622654498

Gene: SALL1

Linked Data

• dbSNP Id: rs1455655926
• gnomAD v2: 16-51175640-A-AGCTGCC
• gnomAD v3: 16-51141729-A-AGCTGCC
• gnomAD v4: 16-51141729-A-AGCTGCC
• MyVariant Identifiers: chr16:g.51175649_51175661delinsTGCCGCCGCCGCCGCTGCT (hg19) ; chr16:g.51175640_51175641insGCTGCC (hg19) ; chr16:g.51141729_51141730insGCTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141732_51141737dup , CM000678.2:g.51141732_51141737dup	GRCh38
NC_000016.9:g.51175643_51175648dup , CM000678.1:g.51175643_51175648dup	GRCh37
NC_000016.8:g.49733144_49733149dup	NCBI36
NG_007990.1:g.14538_14543dup , LRG_674:g.14538_14543dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.487_492dup	ENSP00000407914.2:p.Ser164_Ser165insGlySer
ENST00000570206.2:c.196_201dup	ENSP00000456777.2:p.Ser67_Ser68insGlySer
ENST00000685868.1:c.487_492dup	ENSP00000509873.1:p.Ser164_Ser165insGlySer
ENST00000690502.1:c.487_492dup	ENSP00000510560.1:p.Ser164_Ser165insGlySer
ENST00000251020.9:c.487_492dup MANE Select	ENSP00000251020.4:p.Ser164_Ser165insGlySer
ENST00000251020.8:c.487_492dup	ENSP00000251020.4:p.Ser164_Ser165insGlySer
ENST00000440970.5:c.196_201dup	ENSP00000407914.1:p.Ser67_Ser68insGlySer
ENST00000566102.1:c.77-4183_77-4178dup	ENSP00000455582.1:n.77-4183_77-4178dup
ENST00000570206.1:c.196_201dup	ENSP00000456777.1:p.Ser67_Ser68insGlySer
NM_001127892.1:c.196_201dup	NP_001121364.1:p.Ser67_Ser68insGlySer
NM_002968.2:c.487_492dup , LRG_674t1:c.487_492dup	NP_002959.2:p.Ser164_Ser165insGlySer
XM_006721241.2:c.487_492dup	XP_006721304.1:p.Ser164_Ser165insGlySer
XM_011523254.1:c.487_492dup	XP_011521556.1:p.Ser164_Ser165insGlySer
XM_011523255.1:c.487_492dup	XP_011521557.1:p.Ser164_Ser165insGlySer
NM_002968.3:c.487_492dup MANE Select	NP_002959.2:p.Ser164_Ser165insGlySer
NM_001127892.2:c.196_201dup	NP_001121364.1:p.Ser67_Ser68insGlySer