Canonical Allele Identifier: CA2695223345

Gene: SALL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51139213_51139216del , CM000678.2:g.51139213_51139216del	GRCh38
NC_000016.9:g.51173124_51173127del , CM000678.1:g.51173124_51173127del	GRCh37
NC_000016.8:g.49730625_49730628del	NCBI36
NG_007990.1:g.17057_17060del , LRG_674:g.17057_17060del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.3006_3009del	ENSP00000407914.2:p.Cys1003ThrfsTer?
ENST00000570206.2:c.2715_2718del	ENSP00000456777.2:p.Cys906ThrfsTer?
ENST00000685868.1:c.3006_3009del	ENSP00000509873.1:p.Cys1003ThrfsTer?
ENST00000690502.1:c.3006_3009del	ENSP00000510560.1:p.Cys1003ThrfsTer?
ENST00000251020.9:c.3006_3009del MANE Select	ENSP00000251020.4:p.Cys1003ThrfsTer?
ENST00000251020.8:c.3006_3009del	ENSP00000251020.4:p.Cys1003ThrfsTer?
ENST00000440970.5:c.2715_2718del	ENSP00000407914.1:p.Cys906ThrfsTer?
ENST00000566102.1:c.77-1664_77-1661del	ENSP00000455582.1:n.77-1664_77-1661del
ENST00000570206.1:c.2715_2718del	ENSP00000456777.1:p.Cys906ThrfsTer?
NM_001127892.1:c.2715_2718del	NP_001121364.1:p.Cys906ThrfsTer?
NM_002968.2:c.3006_3009del , LRG_674t1:c.3006_3009del	NP_002959.2:p.Cys1003ThrfsTer?
XM_006721241.2:c.3006_3009del	XP_006721304.1:p.Cys1003ThrfsTer?
XM_011523254.1:c.3006_3009del	XP_011521556.1:p.Cys1003ThrfsTer?
XM_011523255.1:c.3006_3009del	XP_011521557.1:p.Cys1003ThrfsTer?
NM_002968.3:c.3006_3009del MANE Select	NP_002959.2:p.Cys1003ThrfsTer?
NM_001127892.2:c.2715_2718del	NP_001121364.1:p.Cys906ThrfsTer?