Canonical Allele Identifier: CA2653358750

Gene: SALL4

Linked Data

• gnomAD v4: 20-51784337-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784339dup , CM000682.2:g.51784339dup	GRCh38
NC_000020.10:g.50400878dup , CM000682.1:g.50400878dup	GRCh37
NC_000020.9:g.49834285dup	NCBI36
NG_008000.1:g.23172dup , LRG_675:g.23172dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217086.9:c.3089dup MANE Select	ENSP00000217086.4:p.Ser1031LysfsTer4
ENST00000217086.8:c.3089dup	ENSP00000217086.4:p.Ser1031LysfsTer4
ENST00000371539.7:c.758dup	ENSP00000360594.3:p.Ser254LysfsTer4
ENST00000395997.3:c.1778dup	ENSP00000379319.3:p.Ser594LysfsTer4
NM_020436.3:c.3089dup , LRG_675t1:c.3089dup	NP_065169.1:p.Ser1031LysfsTer4
XM_005260467.2:c.2783dup	XP_005260524.1:p.Ser929LysfsTer4
XM_006723834.2:c.2783dup	XP_006723897.1:p.Ser929LysfsTer4
XM_011528919.1:c.2963dup	XP_011527221.1:p.Ser989LysfsTer4
XM_011528920.1:c.2783dup	XP_011527222.1:p.Ser929LysfsTer4
XM_011528921.1:c.2783dup	XP_011527223.1:p.Ser929LysfsTer4
XM_011528922.1:c.2783dup	XP_011527224.1:p.Ser929LysfsTer4
XM_011528923.1:c.1778dup	XP_011527225.1:p.Ser594LysfsTer4
NM_001318031.1:c.1778dup	NP_001304960.1:p.Ser594LysfsTer4
NM_020436.4:c.3089dup	NP_065169.1:p.Ser1031LysfsTer4
XM_005260467.4:c.2783dup	XP_005260524.1:p.Ser929LysfsTer4
XM_011528921.2:c.2783dup	XP_011527223.1:p.Ser929LysfsTer4
XM_011528922.2:c.2783dup	XP_011527224.1:p.Ser929LysfsTer4
NM_020436.5:c.3089dup MANE Select	NP_065169.1:p.Ser1031LysfsTer4
NM_001318031.2:c.1778dup	NP_001304960.1:p.Ser594LysfsTer4