LDH info

Canonical Allele Identifier: CA16042146
Gene: PALB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371971
dbSNP Id: rs1057517600

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23607958del , CM000678.2:g.23607958del GRCh38
NC_000016.9:g.23619279del , CM000678.1:g.23619279del GRCh37
NC_000016.8:g.23526780del NCBI36
NG_007406.1:g.38400del , LRG_308:g.38400del

Transcript Alleles

HGVS Amino-acid change
NM_024675.3:c.3256del , LRG_308t1:c.3256del NP_078951.2:p.Arg1086GlufsTer9
XM_011545946.1:c.3262del XP_011544248.1:p.Arg1088GlufsTer9
XM_011545947.1:c.3208-4289del XP_011544249.1:p.=
XM_011545948.1:c.2371del XP_011544250.1:p.Arg791GlufsTer9
XR_950851.1:n.3964del
XM_011545946.2:c.3262del XP_011544248.1:p.Arg1088GlufsTer9
XM_011545947.2:c.3208-4289del XP_011544249.1:p.=
XM_011545948.2:c.2371del XP_011544250.1:p.Arg791GlufsTer9
XM_017023671.1:c.3120-4289del XP_016879160.1:p.=
XM_017023672.2:c.3114-4289del XP_016879161.1:p.=
XM_017023673.2:c.3202-4289del XP_016879162.1:p.=
ENST00000261584.8:c.3256del ENSP00000261584.4:p.Arg1086GlufsTer9
ENST00000566069.5:n.117-4289del
ENST00000568219.5:c.2371del ENSP00000454703.2:p.Arg791GlufsTer9