LDH info

Canonical Allele Identifier: CA325699
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35837
dbSNP Id: rs121908799

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592218_117592219delinsG , CM000669.2:g.117592218_117592219delinsG GRCh38
NC_000007.13:g.117232272_117232273delinsG , CM000669.1:g.117232272_117232273delinsG GRCh37
NC_000007.12:g.117019508_117019509delinsG NCBI36
NG_016465.4:g.131435_131436delinsG , LRG_663:g.131435_131436delinsG

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2051_2052delinsG , LRG_663t1:c.2051_2052delinsG NP_000483.3:p.Lys684SerfsTer?
XM_011515751.1:c.2141_2142delinsG XP_011514053.1:p.Lys714SerfsTer?
XM_011515752.1:c.2141_2142delinsG XP_011514054.1:p.Lys714SerfsTer?
XM_011515753.1:c.1808_1809delinsG XP_011514055.1:p.Lys603SerfsTer?
XM_011515754.1:c.1808_1809delinsG XP_011514056.1:p.Lys603SerfsTer?
NM_000492.4:c.2051_2052delinsG VV NP_000483.3:p.Lys684SerfsTer?
ENST00000003084.10:c.2051_2052delinsG ENSP00000003084.6:p.Lys684SerfsTer?
ENST00000426809.5:n.1961_1962delinsG ENSP00000389119.1:p.Lys654SerfsTer?