LDH info

Canonical Allele Identifier: CA326724
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53421

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592151_117592154del , CM000669.2:g.117592151_117592154del GRCh38
NC_000007.13:g.117232205_117232208del , CM000669.1:g.117232205_117232208del GRCh37
NC_000007.12:g.117019441_117019444del NCBI36
NG_016465.4:g.131368_131371del , LRG_663:g.131368_131371del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.1984_1987del , LRG_663t1:c.1984_1987del NP_000483.3:p.Thr663ArgfsTer8
XM_011515751.1:c.2074_2077del XP_011514053.1:p.Thr693ArgfsTer8
XM_011515752.1:c.2074_2077del XP_011514054.1:p.Thr693ArgfsTer8
XM_011515753.1:c.1741_1744del XP_011514055.1:p.Thr582ArgfsTer8
XM_011515754.1:c.1741_1744del XP_011514056.1:p.Thr582ArgfsTer8
NM_000492.4:c.1984_1987del VV MANE Preferred NP_000483.3:p.Thr663ArgfsTer8
ENST00000003084.10:c.1984_1987del ENSP00000003084.6:p.Thr663ArgfsTer8
ENST00000426809.5:n.1894_1897del ENSP00000389119.1:p.Thr633ArgfsTer8