Canonical Allele Identifier: CA658799372

Gene: SALL4

Linked Data

• ClinVar Variation Id: 504073
• ClinVar RCV Id: RCV000599410
• dbSNP Id: rs1555849125
• gnomAD v4: 20-51784584-CTT-C
• MyVariant Identifiers: chr20:g.50401124_50401125del (hg19) ; chr20:g.51784585_51784586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784588_51784589del , CM000682.2:g.51784588_51784589del	GRCh38
NC_000020.10:g.50401127_50401128del , CM000682.1:g.50401127_50401128del	GRCh37
NC_000020.9:g.49834534_49834535del	NCBI36
NG_008000.1:g.22924_22925del , LRG_675:g.22924_22925del

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.2841_2842del MANE Select	ENSP00000217086.4:p.Arg948SerfsTer?
ENST00000217086.8:c.2841_2842del	ENSP00000217086.4:p.Arg948SerfsTer?
ENST00000371539.7:c.510_511del	ENSP00000360594.3:p.Arg171SerfsTer?
ENST00000395997.3:c.1530_1531del	ENSP00000379319.3:p.Arg511SerfsTer?
NM_020436.3:c.2841_2842del , LRG_675t1:c.2841_2842del	NP_065169.1:p.Arg948SerfsTer?
XM_005260467.2:c.2535_2536del	XP_005260524.1:p.Arg846SerfsTer?
XM_006723834.2:c.2535_2536del	XP_006723897.1:p.Arg846SerfsTer?
XM_011528919.1:c.2715_2716del	XP_011527221.1:p.Arg906SerfsTer?
XM_011528920.1:c.2535_2536del	XP_011527222.1:p.Arg846SerfsTer?
XM_011528921.1:c.2535_2536del	XP_011527223.1:p.Arg846SerfsTer?
XM_011528922.1:c.2535_2536del	XP_011527224.1:p.Arg846SerfsTer?
XM_011528923.1:c.1530_1531del	XP_011527225.1:p.Arg511SerfsTer?
NM_001318031.1:c.1530_1531del	NP_001304960.1:p.Arg511SerfsTer?
NM_020436.4:c.2841_2842del	NP_065169.1:p.Arg948SerfsTer?
XM_005260467.4:c.2535_2536del	XP_005260524.1:p.Arg846SerfsTer?
XM_011528921.2:c.2535_2536del	XP_011527223.1:p.Arg846SerfsTer?
XM_011528922.2:c.2535_2536del	XP_011527224.1:p.Arg846SerfsTer?
NM_020436.5:c.2841_2842del MANE Select	NP_065169.1:p.Arg948SerfsTer?
NM_001318031.2:c.1530_1531del	NP_001304960.1:p.Arg511SerfsTer?