Canonical Allele Identifier: CA2499223540

Gene: SALL1

Linked Data

• ClinVar Variation Id: 1264173
• ClinVar RCV Id: RCV001667708
• dbSNP Id: rs2143440766

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51139648_51139649delinsTT , CM000678.2:g.51139648_51139649delinsTT	GRCh38
NC_000016.9:g.51173559_51173560delinsTT , CM000678.1:g.51173559_51173560delinsTT	GRCh37
NC_000016.8:g.49731060_49731061delinsTT	NCBI36
NG_007990.1:g.16624_16625delinsAA , LRG_674:g.16624_16625delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.2573_2574delinsAA	ENSP00000407914.2:p.Leu858Gln
ENST00000570206.2:c.2282_2283delinsAA	ENSP00000456777.2:p.Leu761Gln
ENST00000685868.1:c.2573_2574delinsAA	ENSP00000509873.1:p.Leu858Gln
ENST00000690502.1:c.2573_2574delinsAA	ENSP00000510560.1:p.Leu858Gln
ENST00000251020.9:c.2573_2574delinsAA MANE Select	ENSP00000251020.4:p.Leu858Gln
ENST00000251020.8:c.2573_2574delinsAA	ENSP00000251020.4:p.Leu858Gln
ENST00000440970.5:c.2282_2283delinsAA	ENSP00000407914.1:p.Leu761Gln
ENST00000566102.1:c.77-2097_77-2096delinsAA	ENSP00000455582.1:n.77-2097_77-2096delinsAA
ENST00000570206.1:c.2282_2283delinsAA	ENSP00000456777.1:p.Leu761Gln
NM_001127892.1:c.2282_2283delinsAA	NP_001121364.1:p.Leu761Gln
NM_002968.2:c.2573_2574delinsAA , LRG_674t1:c.2573_2574delinsAA	NP_002959.2:p.Leu858Gln
XM_006721241.2:c.2573_2574delinsAA	XP_006721304.1:p.Leu858Gln
XM_011523254.1:c.2573_2574delinsAA	XP_011521556.1:p.Leu858Gln
XM_011523255.1:c.2573_2574delinsAA	XP_011521557.1:p.Leu858Gln
NM_002968.3:c.2573_2574delinsAA MANE Select	NP_002959.2:p.Leu858Gln
NM_001127892.2:c.2282_2283delinsAA	NP_001121364.1:p.Leu761Gln