LDH info

Canonical Allele Identifier: CA327672
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 54072

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117536665_117536669del , CM000669.2:g.117536665_117536669del GRCh38
NC_000007.13:g.117176719_117176723del , CM000669.1:g.117176719_117176723del GRCh37
NC_000007.12:g.116963955_116963959del NCBI36
NG_016465.4:g.75882_75886del , LRG_663:g.75882_75886del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.861_865del , LRG_663t1:c.861_865del NP_000483.3:p.Asn287LysfsTer19
XM_011515751.1:c.951_955del XP_011514053.1:p.Asn317LysfsTer19
XM_011515752.1:c.951_955del XP_011514054.1:p.Asn317LysfsTer19
XM_011515753.1:c.618_622del XP_011514055.1:p.Asn206LysfsTer19
XM_011515754.1:c.618_622del XP_011514056.1:p.Asn206LysfsTer19
NM_000492.4:c.861_865del VV MANE Preferred NP_000483.3:p.Asn287LysfsTer19
ENST00000003084.10:c.861_865del ENSP00000003084.6:p.Asn287LysfsTer19
ENST00000426809.5:n.771_775del ENSP00000389119.1:p.Asn257LysfsTer19