Canonical Allele Identifier: CA8053037

Gene: SALL1

Linked Data

• ClinVar Variation Id: 723439
• ClinVar RCV Id: RCV002540155
• dbSNP Id: rs760807997
• ExAC: 16:51173329 G / GTGCTGT
• gnomAD v2: 16-51173329-G-GTGCTGT
• gnomAD v3: 16-51139418-G-GTGCTGT
• gnomAD v4: 16-51139418-G-GTGCTGT
• MyVariant Identifiers: chr16:g.51173329_51173330insTGCTGT (hg19) ; chr16:g.51139418_51139419insTGCTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51139421_51139426dup , CM000678.2:g.51139421_51139426dup	GRCh38
NC_000016.9:g.51173332_51173337dup , CM000678.1:g.51173332_51173337dup	GRCh37
NC_000016.8:g.49730833_49730838dup	NCBI36
NG_007990.1:g.16849_16854dup , LRG_674:g.16849_16854dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.2798_2803dup	ENSP00000407914.2:p.Ser934_Thr935insAsnSer
ENST00000570206.2:c.2507_2512dup	ENSP00000456777.2:p.Ser837_Thr838insAsnSer
ENST00000685868.1:c.2798_2803dup	ENSP00000509873.1:p.Ser934_Thr935insAsnSer
ENST00000690502.1:c.2798_2803dup	ENSP00000510560.1:p.Ser934_Thr935insAsnSer
ENST00000251020.9:c.2798_2803dup MANE Select	ENSP00000251020.4:p.Ser934_Thr935insAsnSer
ENST00000251020.8:c.2798_2803dup	ENSP00000251020.4:p.Ser934_Thr935insAsnSer
ENST00000440970.5:c.2507_2512dup	ENSP00000407914.1:p.Ser837_Thr838insAsnSer
ENST00000566102.1:c.77-1872_77-1867dup	ENSP00000455582.1:n.77-1872_77-1867dup
ENST00000570206.1:c.2507_2512dup	ENSP00000456777.1:p.Ser837_Thr838insAsnSer
NM_001127892.1:c.2507_2512dup	NP_001121364.1:p.Ser837_Thr838insAsnSer
NM_002968.2:c.2798_2803dup , LRG_674t1:c.2798_2803dup	NP_002959.2:p.Ser934_Thr935insAsnSer
XM_006721241.2:c.2798_2803dup	XP_006721304.1:p.Ser934_Thr935insAsnSer
XM_011523254.1:c.2798_2803dup	XP_011521556.1:p.Ser934_Thr935insAsnSer
XM_011523255.1:c.2798_2803dup	XP_011521557.1:p.Ser934_Thr935insAsnSer
NM_002968.3:c.2798_2803dup MANE Select	NP_002959.2:p.Ser934_Thr935insAsnSer
NM_001127892.2:c.2507_2512dup	NP_001121364.1:p.Ser837_Thr838insAsnSer