Canonical Allele Identifier: CA913203537

Gene: SALL4

Linked Data

• ClinVar Variation Id: 1806356
• ClinVar RCV Id: RCV002470640

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51790234del , CM000682.2:g.51790234del	GRCh38
NC_000020.10:g.50406773del , CM000682.1:g.50406773del	GRCh37
NC_000020.9:g.49840180del	NCBI36
NG_008000.1:g.17279del , LRG_675:g.17279del

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.2252del MANE Select	ENSP00000217086.4:p.Asn751ThrfsTer9
ENST00000217086.8:c.2252del	ENSP00000217086.4:p.Asn751ThrfsTer9
ENST00000371539.7:c.131-1090del	ENSP00000360594.3:n.131-1090del
ENST00000395997.3:c.1151-1090del	ENSP00000379319.3:n.1151-1090del
NM_020436.3:c.2252del , LRG_675t1:c.2252del	NP_065169.1:p.Asn751ThrfsTer9
XM_005260467.2:c.1946del	XP_005260524.1:p.Asn649ThrfsTer9
XM_006723834.2:c.1946del	XP_006723897.1:p.Asn649ThrfsTer9
XM_011528919.1:c.2126del	XP_011527221.1:p.Asn709ThrfsTer9
XM_011528920.1:c.1946del	XP_011527222.1:p.Asn649ThrfsTer9
XM_011528921.1:c.1946del	XP_011527223.1:p.Asn649ThrfsTer9
XM_011528922.1:c.1946del	XP_011527224.1:p.Asn649ThrfsTer9
XM_011528923.1:c.1151-1090del	XP_011527225.1:n.1151-1090del
NM_001318031.1:c.1151-1090del	NP_001304960.1:n.1151-1090del
NM_020436.4:c.2252del	NP_065169.1:p.Asn751ThrfsTer9
XM_005260467.4:c.1946del	XP_005260524.1:p.Asn649ThrfsTer9
XM_011528921.2:c.1946del	XP_011527223.1:p.Asn649ThrfsTer9
XM_011528922.2:c.1946del	XP_011527224.1:p.Asn649ThrfsTer9
NM_020436.5:c.2252del MANE Select	NP_065169.1:p.Asn751ThrfsTer9
NM_001318031.2:c.1151-1090del	NP_001304960.1:n.1151-1090del