Canonical Allele Identifier: CA2739266761

Gene: SALL1

Linked Data

• ClinVar Variation Id: 2828754
• ClinVar RCV Id: RCV003758218

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51139093_51139094del , CM000678.2:g.51139093_51139094del	GRCh38
NC_000016.9:g.51173004_51173005del , CM000678.1:g.51173004_51173005del	GRCh37
NC_000016.8:g.49730505_49730506del	NCBI36
NG_007990.1:g.17179_17180del , LRG_674:g.17179_17180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.3128_3129del	ENSP00000407914.2:p.Asn1043IlefsTer19
ENST00000570206.2:c.2837_2838del	ENSP00000456777.2:p.Asn946IlefsTer19
ENST00000685868.1:c.3128_3129del	ENSP00000509873.1:p.Asn1043IlefsTer19
ENST00000690502.1:c.3128_3129del	ENSP00000510560.1:p.Asn1043IlefsTer19
ENST00000251020.9:c.3128_3129del MANE Select	ENSP00000251020.4:p.Asn1043IlefsTer19
ENST00000251020.8:c.3128_3129del	ENSP00000251020.4:p.Asn1043IlefsTer19
ENST00000440970.5:c.2837_2838del	ENSP00000407914.1:p.Asn946IlefsTer19
ENST00000566102.1:c.77-1542_77-1541del	ENSP00000455582.1:n.77-1542_77-1541del
ENST00000570206.1:c.2837_2838del	ENSP00000456777.1:p.Asn946IlefsTer19
NM_001127892.1:c.2837_2838del	NP_001121364.1:p.Asn946IlefsTer19
NM_002968.2:c.3128_3129del , LRG_674t1:c.3128_3129del	NP_002959.2:p.Asn1043IlefsTer19
XM_006721241.2:c.3128_3129del	XP_006721304.1:p.Asn1043IlefsTer19
XM_011523254.1:c.3128_3129del	XP_011521556.1:p.Asn1043IlefsTer19
XM_011523255.1:c.3128_3129del	XP_011521557.1:p.Asn1043IlefsTer19
NM_002968.3:c.3128_3129del MANE Select	NP_002959.2:p.Asn1043IlefsTer19
NM_001127892.2:c.2837_2838del	NP_001121364.1:p.Asn946IlefsTer19