LDH info

Canonical Allele Identifier: CA328105
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53515
dbSNP Id: rs397508399

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117595022del , CM000669.2:g.117595022del GRCh38
NC_000007.13:g.117235076del , CM000669.1:g.117235076del GRCh37
NC_000007.12:g.117022312del NCBI36
NG_016465.4:g.134239del , LRG_663:g.134239del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2583del , LRG_663t1:c.2583del NP_000483.3:p.Phe861LeufsTer3
XM_011515751.1:c.2673del XP_011514053.1:p.Phe891LeufsTer3
XM_011515752.1:c.2673del XP_011514054.1:p.Phe891LeufsTer3
XM_011515753.1:c.2340del XP_011514055.1:p.Phe780LeufsTer3
XM_011515754.1:c.2340del XP_011514056.1:p.Phe780LeufsTer3
NM_000492.4:c.2583del VV MANE Preferred NP_000483.3:p.Phe861LeufsTer3
ENST00000003084.10:c.2583del ENSP00000003084.6:p.Phe861LeufsTer3
ENST00000426809.5:n.2493del ENSP00000389119.1:p.Phe831LeufsTer3