LDH info

Canonical Allele Identifier: CA326724
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53421
ClinVar RCV Id: RCV000046515

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592153_117592156del , CM000669.2:g.117592153_117592156del GRCh38
NC_000007.13:g.117232207_117232210del , CM000669.1:g.117232207_117232210del GRCh37
NC_000007.12:g.117019443_117019446del NCBI36
NG_016465.4:g.131370_131373del , LRG_663:g.131370_131373del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.1986_1989del , LRG_663t1:c.1986_1989del NP_000483.3:p.Thr663ArgfsTer8
XM_011515751.1:c.2076_2079del XP_011514053.1:p.Thr693ArgfsTer8
XM_011515752.1:c.2076_2079del XP_011514054.1:p.Thr693ArgfsTer8
XM_011515753.1:c.1743_1746del XP_011514055.1:p.Thr582ArgfsTer8
XM_011515754.1:c.1743_1746del XP_011514056.1:p.Thr582ArgfsTer8
ENST00000003084.10:c.1986_1989del ENSP00000003084.6:p.Thr663ArgfsTer8
ENST00000426809.5:n.1896_1899del ENSP00000389119.1:p.Thr633ArgfsTer8