LDH info

Canonical Allele Identifier: CA326794
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53475

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117509102dup , CM000669.2:g.117509102dup GRCh38
NC_000007.13:g.117149156dup , CM000669.1:g.117149156dup GRCh37
NC_000007.12:g.116936392dup NCBI36
NG_016465.4:g.48319dup , LRG_663:g.48319dup

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.233dup , LRG_663t1:c.233dup NP_000483.3:p.Trp79LeufsTer?
XM_011515751.1:c.323dup XP_011514053.1:p.Trp109LeufsTer?
XM_011515752.1:c.323dup XP_011514054.1:p.Trp109LeufsTer?
XM_011515753.1:c.-11dup XP_011514055.1:p.=
XM_011515754.1:c.-11dup XP_011514056.1:p.=
ENST00000003084.10:c.233dup ENSP00000003084.6:p.Trp79LeufsTer?
ENST00000426809.5:n.233dup ENSP00000389119.1:p.Trp79LeufsTer?
ENST00000446805.1:c.-11dup ENSP00000417012.1:p.=