Canonical Allele Identifier: CA915949260

Gene: SALL1

Linked Data

• ClinVar Variation Id: 817398
• ClinVar RCV Id: RCV001008523
• dbSNP Id: rs1597228550

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51139507_51139510del , CM000678.2:g.51139507_51139510del	GRCh38
NC_000016.9:g.51173418_51173421del , CM000678.1:g.51173418_51173421del	GRCh37
NC_000016.8:g.49730919_49730922del	NCBI36
NG_007990.1:g.16763_16766del , LRG_674:g.16763_16766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.2712_2715del	ENSP00000407914.2:p.Gly906ValfsTer?
ENST00000570206.2:c.2421_2424del	ENSP00000456777.2:p.Gly809ValfsTer?
ENST00000685868.1:c.2712_2715del	ENSP00000509873.1:p.Gly906ValfsTer?
ENST00000690502.1:c.2712_2715del	ENSP00000510560.1:p.Gly906ValfsTer?
ENST00000251020.9:c.2712_2715del MANE Select	ENSP00000251020.4:p.Gly906ValfsTer?
ENST00000251020.8:c.2712_2715del	ENSP00000251020.4:p.Gly906ValfsTer?
ENST00000440970.5:c.2421_2424del	ENSP00000407914.1:p.Gly809ValfsTer?
ENST00000566102.1:c.77-1958_77-1955del	ENSP00000455582.1:n.77-1958_77-1955del
ENST00000570206.1:c.2421_2424del	ENSP00000456777.1:p.Gly809ValfsTer?
NM_001127892.1:c.2421_2424del	NP_001121364.1:p.Gly809ValfsTer?
NM_002968.2:c.2712_2715del , LRG_674t1:c.2712_2715del	NP_002959.2:p.Gly906ValfsTer?
XM_006721241.2:c.2712_2715del	XP_006721304.1:p.Gly906ValfsTer?
XM_011523254.1:c.2712_2715del	XP_011521556.1:p.Gly906ValfsTer?
XM_011523255.1:c.2712_2715del	XP_011521557.1:p.Gly906ValfsTer?
NM_002968.3:c.2712_2715del MANE Select	NP_002959.2:p.Gly906ValfsTer?
NM_001127892.2:c.2421_2424del	NP_001121364.1:p.Gly809ValfsTer?