LDH info

Canonical Allele Identifier: CA151254
Gene: PALB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 126768
dbSNP Id: rs180177092

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635790_23635791del , CM000678.2:g.23635790_23635791del GRCh38
NC_000016.9:g.23647111_23647112del , CM000678.1:g.23647111_23647112del GRCh37
NC_000016.8:g.23554612_23554613del NCBI36
NG_007406.1:g.10569_10570del , LRG_308:g.10569_10570del

Transcript Alleles

HGVS Amino-acid change
NM_024675.3:c.757_758del , LRG_308t1:c.757_758del NP_078951.2:p.Leu253IlefsTer3
XM_011545946.1:c.763_764del XP_011544248.1:p.Leu255IlefsTer3
XM_011545947.1:c.763_764del XP_011544249.1:p.Leu255IlefsTer3
XM_011545948.1:c.-129_-128del XP_011544250.1:p.=
XR_950851.1:n.1553_1554del
XM_011545946.2:c.763_764del XP_011544248.1:p.Leu255IlefsTer3
XM_011545947.2:c.763_764del XP_011544249.1:p.Leu255IlefsTer3
XM_011545948.2:c.-129_-128del XP_011544250.1:p.=
XM_017023671.1:c.763_764del XP_016879160.1:p.Leu255IlefsTer3
XM_017023672.2:c.757_758del XP_016879161.1:p.Leu253IlefsTer3
XM_017023673.2:c.757_758del XP_016879162.1:p.Leu253IlefsTer3
ENST00000261584.8:c.757_758del ENSP00000261584.4:p.Leu253IlefsTer3
ENST00000565038.1:n.86+2061_86+2062del
ENST00000568219.5:c.-129_-128del ENSP00000454703.2:p.=