Canonical Allele Identifier: CA745389515

Gene: SALL4

Linked Data

• dbSNP Id: rs1316053759
• gnomAD v3: 20-51784164-CAGTA-C
• gnomAD v4: 20-51784164-CAGTA-C
• MyVariant Identifiers: chr20:g.50400704_50400707del (hg19) ; chr20:g.51784165_51784168del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784167_51784170del , CM000682.2:g.51784167_51784170del	GRCh38
NC_000020.10:g.50400706_50400709del , CM000682.1:g.50400706_50400709del	GRCh37
NC_000020.9:g.49834113_49834116del	NCBI36
NG_008000.1:g.23342_23345del , LRG_675:g.23342_23345del

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.*97_*100del MANE Select	ENSP00000217086.4:n.*97_*100del
ENST00000217086.8:c.*97_*100del	ENSP00000217086.4:n.*97_*100del
ENST00000371539.7:c.*97_*100del	ENSP00000360594.3:n.*97_*100del
NM_020436.3:c.*97_*100del , LRG_675t1:c.*97_*100del	NP_065169.1:n.*97_*100del
XM_005260467.2:c.*97_*100del	XP_005260524.1:n.*97_*100del
XM_006723834.2:c.*97_*100del	XP_006723897.1:n.*97_*100del
XM_011528919.1:c.*97_*100del	XP_011527221.1:n.*97_*100del
XM_011528920.1:c.*97_*100del	XP_011527222.1:n.*97_*100del
XM_011528921.1:c.*97_*100del	XP_011527223.1:n.*97_*100del
XM_011528922.1:c.*97_*100del	XP_011527224.1:n.*97_*100del
XM_011528923.1:c.*97_*100del	XP_011527225.1:n.*97_*100del
NM_001318031.1:c.*97_*100del	NP_001304960.1:n.*97_*100del
NM_020436.4:c.*97_*100del	NP_065169.1:n.*97_*100del
XM_005260467.4:c.*97_*100del	XP_005260524.1:n.*97_*100del
XM_011528921.2:c.*97_*100del	XP_011527223.1:n.*97_*100del
XM_011528922.2:c.*97_*100del	XP_011527224.1:n.*97_*100del
NM_020436.5:c.*97_*100del MANE Select	NP_065169.1:n.*97_*100del
NM_001318031.2:c.*97_*100del	NP_001304960.1:n.*97_*100del