Canonical Allele Identifier: CA16620940

Gene: SALL4

Linked Data

• ClinVar Variation Id: 423567
• ClinVar RCV Id: RCV000481093
• dbSNP Id: rs1064796498

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784578_51784579delinsTT , CM000682.2:g.51784578_51784579delinsTT	GRCh38
NC_000020.10:g.50401117_50401118delinsTT , CM000682.1:g.50401117_50401118delinsTT	GRCh37
NC_000020.9:g.49834524_49834525delinsTT	NCBI36
NG_008000.1:g.22931_22932delinsAA , LRG_675:g.22931_22932delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000217086.9:c.2848_2849delinsAA MANE Select	ENSP00000217086.4:p.Ser950Lys
ENST00000217086.8:c.2848_2849delinsAA	ENSP00000217086.4:p.Ser950Lys
ENST00000371539.7:c.517_518delinsAA	ENSP00000360594.3:p.Ser173Lys
ENST00000395997.3:c.1537_1538delinsAA	ENSP00000379319.3:p.Ser513Lys
NM_020436.3:c.2848_2849delinsAA , LRG_675t1:c.2848_2849delinsAA	NP_065169.1:p.Ser950Lys
XM_005260467.2:c.2542_2543delinsAA	XP_005260524.1:p.Ser848Lys
XM_006723834.2:c.2542_2543delinsAA	XP_006723897.1:p.Ser848Lys
XM_011528919.1:c.2722_2723delinsAA	XP_011527221.1:p.Ser908Lys
XM_011528920.1:c.2542_2543delinsAA	XP_011527222.1:p.Ser848Lys
XM_011528921.1:c.2542_2543delinsAA	XP_011527223.1:p.Ser848Lys
XM_011528922.1:c.2542_2543delinsAA	XP_011527224.1:p.Ser848Lys
XM_011528923.1:c.1537_1538delinsAA	XP_011527225.1:p.Ser513Lys
NM_001318031.1:c.1537_1538delinsAA	NP_001304960.1:p.Ser513Lys
NM_020436.4:c.2848_2849delinsAA	NP_065169.1:p.Ser950Lys
XM_005260467.4:c.2542_2543delinsAA	XP_005260524.1:p.Ser848Lys
XM_011528921.2:c.2542_2543delinsAA	XP_011527223.1:p.Ser848Lys
XM_011528922.2:c.2542_2543delinsAA	XP_011527224.1:p.Ser848Lys
NM_020436.5:c.2848_2849delinsAA MANE Select	NP_065169.1:p.Ser950Lys
NM_001318031.2:c.1537_1538delinsAA	NP_001304960.1:p.Ser513Lys