Canonical Allele Identifier: CA2684587835
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2914224
ClinVar RCV Id: RCV003619066

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603795del , CM000669.2:g.117603795del GRCh38
NC_000007.13:g.117243849del , CM000669.1:g.117243849del GRCh37
NC_000007.12:g.117031085del NCBI36
NG_016465.4:g.143012del , LRG_663:g.143012del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2908+13del ENSP00000497673.2:n.2908+13del
ENST00000647978.2:c.*2622+13del ENSP00000497658.1:n.*2622+13del
ENST00000649781.2:c.2725+13del ENSP00000497203.1:n.2725+13del
ENST00000685018.2:c.2908+13del ENSP00000510194.2:n.2908+13del
ENST00000687278.2:c.2908+13del ENSP00000509593.2:n.2908+13del
ENST00000699585.1:c.2908+13del ENSP00000514456.1:n.2908+13del
ENST00000699598.1:c.2908+13del ENSP00000514467.1:n.2908+13del
ENST00000699599.1:c.2908+13del ENSP00000514468.1:n.2908+13del
ENST00000699600.1:c.2908+13del ENSP00000514469.1:n.2908+13del
ENST00000699601.1:c.*1208+13del ENSP00000514470.1:n.*1208+13del
ENST00000699602.1:c.2908+13del ENSP00000514471.1:n.2908+13del
ENST00000699604.1:c.*2732+13del ENSP00000514472.1:n.*2732+13del
ENST00000699605.1:c.2482+13del ENSP00000514473.1:n.2482+13del
ENST00000687278.1:c.499+13del ENSP00000509593.1:n.499+13del
ENST00000003084.11:c.2908+13del MANE Select ENSP00000003084.6:n.2908+13del
ENST00000647720.1:c.558+13del
ENST00000648260.1:c.1690+13del ENSP00000497957.1:n.1690+13del
ENST00000649406.1:c.2725+13del ENSP00000497965.1:n.2725+13del
ENST00000649781.1:c.2725+13del ENSP00000497203.1:n.2725+13del
ENST00000003084.10:c.2908+13del ENSP00000003084.6:n.2908+13del
ENST00000426809.5:c.2818+13del ENSP00000389119.1:n.2818+13del
NM_000492.3:c.2908+13del , LRG_663t1:c.2908+13del NP_000483.3:n.2908+13del
XM_011515751.1:c.2998+13del XP_011514053.1:n.2998+13del
XM_011515752.1:c.2998+13del XP_011514054.1:n.2998+13del
XM_011515753.1:c.2665+13del XP_011514055.1:n.2665+13del
XM_011515754.1:c.2665+13del XP_011514056.1:n.2665+13del
NM_000492.4:c.2908+13del MANE Select NP_000483.3:n.2908+13del