Canonical Allele Identifier: CA2695223383

Gene: SALL1

Linked Data

• ClinVar Variation Id: 2687773
• ClinVar RCV Id: RCV003485011

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141076del , CM000678.2:g.51141076del	GRCh38
NC_000016.9:g.51174987del , CM000678.1:g.51174987del	GRCh37
NC_000016.8:g.49732488del	NCBI36
NG_007990.1:g.15199del , LRG_674:g.15199del

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.1148del	ENSP00000407914.2:p.Leu383TyrfsTer2
ENST00000570206.2:c.857del	ENSP00000456777.2:p.Leu286TyrfsTer2
ENST00000685868.1:c.1148del	ENSP00000509873.1:p.Leu383TyrfsTer2
ENST00000690502.1:c.1148del	ENSP00000510560.1:p.Leu383TyrfsTer2
ENST00000251020.9:c.1148del MANE Select	ENSP00000251020.4:p.Leu383TyrfsTer2
ENST00000251020.8:c.1148del	ENSP00000251020.4:p.Leu383TyrfsTer2
ENST00000440970.5:c.857del	ENSP00000407914.1:p.Leu286TyrfsTer2
ENST00000566102.1:c.77-3522del	ENSP00000455582.1:n.77-3522del
ENST00000570206.1:c.857del	ENSP00000456777.1:p.Leu286TyrfsTer2
NM_001127892.1:c.857del	NP_001121364.1:p.Leu286TyrfsTer2
NM_002968.2:c.1148del , LRG_674t1:c.1148del	NP_002959.2:p.Leu383TyrfsTer2
XM_006721241.2:c.1148del	XP_006721304.1:p.Leu383TyrfsTer2
XM_011523254.1:c.1148del	XP_011521556.1:p.Leu383TyrfsTer2
XM_011523255.1:c.1148del	XP_011521557.1:p.Leu383TyrfsTer2
NM_002968.3:c.1148del MANE Select	NP_002959.2:p.Leu383TyrfsTer2
NM_001127892.2:c.857del	NP_001121364.1:p.Leu286TyrfsTer2