LDH info

Canonical Allele Identifier: CA233699
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35838

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592219dup , CM000669.2:g.117592219dup GRCh38
NC_000007.13:g.117232273dup , CM000669.1:g.117232273dup GRCh37
NC_000007.12:g.117019509dup NCBI36
NG_016465.4:g.131436dup , LRG_663:g.131436dup

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.2052dup , LRG_663t1:c.2052dup NP_000483.3:p.Gln685ThrfsTer4
XM_011515751.1:c.2142dup XP_011514053.1:p.Gln715ThrfsTer4
XM_011515752.1:c.2142dup XP_011514054.1:p.Gln715ThrfsTer4
XM_011515753.1:c.1809dup XP_011514055.1:p.Gln604ThrfsTer4
XM_011515754.1:c.1809dup XP_011514056.1:p.Gln604ThrfsTer4
NM_000492.4:c.2052dup VV MANE Preferred NP_000483.3:p.Gln685ThrfsTer4
ENST00000003084.10:c.2052dup ENSP00000003084.6:p.Gln685ThrfsTer4
ENST00000426809.5:n.1962dup ENSP00000389119.1:p.Gln655ThrfsTer4