Canonical Allele Identifier: CA2816661931
Gene: SALL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.51790219_51790221del , CM000682.2:g.51790219_51790221del GRCh38
NC_000020.10:g.50406758_50406760del , CM000682.1:g.50406758_50406760del GRCh37
NC_000020.9:g.49840165_49840167del NCBI36
NG_008000.1:g.17290_17292del , LRG_675:g.17290_17292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000217086.9:c.2263_2265del MANE Select ENSP00000217086.4:p.Glu755del
ENST00000217086.8:c.2263_2265del ENSP00000217086.4:p.Glu755del
ENST00000371539.7:c.131-1079_131-1077del ENSP00000360594.3:n.131-1079_131-1077del
ENST00000395997.3:c.1151-1079_1151-1077del ENSP00000379319.3:n.1151-1079_1151-1077del
NM_020436.3:c.2263_2265del , LRG_675t1:c.2263_2265del NP_065169.1:p.Glu755del
XM_005260467.2:c.1957_1959del XP_005260524.1:p.Glu653del
XM_006723834.2:c.1957_1959del XP_006723897.1:p.Glu653del
XM_011528919.1:c.2137_2139del XP_011527221.1:p.Glu713del
XM_011528920.1:c.1957_1959del XP_011527222.1:p.Glu653del
XM_011528921.1:c.1957_1959del XP_011527223.1:p.Glu653del
XM_011528922.1:c.1957_1959del XP_011527224.1:p.Glu653del
XM_011528923.1:c.1151-1079_1151-1077del XP_011527225.1:n.1151-1079_1151-1077del
NM_001318031.1:c.1151-1079_1151-1077del NP_001304960.1:n.1151-1079_1151-1077del
NM_020436.4:c.2263_2265del NP_065169.1:p.Glu755del
XM_005260467.4:c.1957_1959del XP_005260524.1:p.Glu653del
XM_011528921.2:c.1957_1959del XP_011527223.1:p.Glu653del
XM_011528922.2:c.1957_1959del XP_011527224.1:p.Glu653del
NM_020436.5:c.2263_2265del MANE Select NP_065169.1:p.Glu755del
NM_001318031.2:c.1151-1079_1151-1077del NP_001304960.1:n.1151-1079_1151-1077del