Canonical Allele Identifier: CA327672
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 54072
dbSNP Id: rs397508805

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
ENST00000647720.2:c.861_865del ENSP00000497673.2:p.Asn287LysfsTer19
ENST00000647978.2:c.*758_*762del ENSP00000497658.1:n.*758_*762del
ENST00000649781.2:c.861_865del ENSP00000497203.1:p.Asn287LysfsTer19
ENST00000685018.2:c.861_865del ENSP00000510194.2:p.Asn287LysfsTer19
ENST00000687278.2:c.861_865del ENSP00000509593.2:p.Asn287LysfsTer19
ENST00000699585.1:c.861_865del ENSP00000514456.1:p.Asn287LysfsTer19
ENST00000699596.1:c.861_865del ENSP00000514465.1:p.Asn287LysfsTer19
ENST00000699597.1:c.861_865del ENSP00000514466.1:p.Asn287LysfsTer19
ENST00000699598.1:c.861_865del ENSP00000514467.1:p.Asn287LysfsTer19
ENST00000699599.1:c.861_865del ENSP00000514468.1:p.Asn287LysfsTer19
ENST00000699600.1:c.861_865del ENSP00000514469.1:p.Asn287LysfsTer19
ENST00000699601.1:c.861_865del ENSP00000514470.1:p.Asn287LysfsTer19
ENST00000699602.1:c.861_865del ENSP00000514471.1:p.Asn287LysfsTer19
ENST00000699604.1:c.*685_*689del ENSP00000514472.1:n.*685_*689del
ENST00000699605.1:c.618_622del ENSP00000514473.1:p.Asn206LysfsTer19
ENST00000003084.11:c.861_865del MANE Select ENSP00000003084.6:p.Asn287LysfsTer19
ENST00000647978.1:c.*758_*762del ENSP00000497658.1:n.*758_*762del
ENST00000648260.1:c.861_865del ENSP00000497957.1:p.Asn287LysfsTer19
ENST00000649406.1:c.861_865del ENSP00000497965.1:p.Asn287LysfsTer19
ENST00000649781.1:c.861_865del ENSP00000497203.1:p.Asn287LysfsTer19
ENST00000673785.1:c.618_622del ENSP00000501235.1:p.Asn206LysfsTer19
ENST00000003084.10:c.861_865del ENSP00000003084.6:p.Asn287LysfsTer19
ENST00000426809.5:c.771_775del ENSP00000389119.1:p.Asn257LysfsTer19
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 MANE Select NP_000483.3:p.Asn287LysfsTer19