Canonical Allele Identifier: CA2684588063
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117606678del , CM000669.2:g.117606678del GRCh38
NC_000007.13:g.117246732del , CM000669.1:g.117246732del GRCh37
NC_000007.12:g.117033968del NCBI36
NG_016465.4:g.145895del , LRG_663:g.145895del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2913del ENSP00000497673.2:p.Ile972PhefsTer9
ENST00000647978.2:c.*2627del ENSP00000497658.1:n.*2627del
ENST00000649781.2:c.2730del ENSP00000497203.1:p.Ile911PhefsTer9
ENST00000685018.2:c.2913del ENSP00000510194.2:p.Ile972PhefsTer9
ENST00000687278.2:c.2913del ENSP00000509593.2:p.Ile972PhefsTer9
ENST00000699585.1:c.2913del ENSP00000514456.1:p.Ile972PhefsTer9
ENST00000699598.1:c.2913del ENSP00000514467.1:p.Ile972PhefsTer9
ENST00000699599.1:c.2913del ENSP00000514468.1:p.Ile972PhefsTer9
ENST00000699600.1:c.2913del ENSP00000514469.1:p.Ile972PhefsTer9
ENST00000699601.1:c.*1213del ENSP00000514470.1:n.*1213del
ENST00000699602.1:c.2913del ENSP00000514471.1:p.Ile972PhefsTer9
ENST00000699604.1:c.*2737del ENSP00000514472.1:n.*2737del
ENST00000699605.1:c.2487del ENSP00000514473.1:p.Ile830PhefsTer9
ENST00000687278.1:c.504del ENSP00000509593.1:p.Ile169PhefsTer9
ENST00000003084.11:c.2913del MANE Select ENSP00000003084.6:p.Ile972PhefsTer9
ENST00000647720.1:c.563del
ENST00000648260.1:c.1695del ENSP00000497957.1:p.Ile566PhefsTer9
ENST00000649406.1:c.2730del ENSP00000497965.1:p.Ile911PhefsTer9
ENST00000649781.1:c.2730del ENSP00000497203.1:p.Ile911PhefsTer9
ENST00000003084.10:c.2913del ENSP00000003084.6:p.Ile972PhefsTer9
ENST00000426809.5:c.2823del ENSP00000389119.1:p.Ile942PhefsTer9
NM_000492.3:c.2913del , LRG_663t1:c.2913del NP_000483.3:p.Ile972PhefsTer9
XM_011515751.1:c.3003del XP_011514053.1:p.Ile1002PhefsTer9
XM_011515752.1:c.3003del XP_011514054.1:p.Ile1002PhefsTer9
XM_011515753.1:c.2670del XP_011514055.1:p.Ile891PhefsTer9
XM_011515754.1:c.2670del XP_011514056.1:p.Ile891PhefsTer9
NM_000492.4:c.2913del MANE Select NP_000483.3:p.Ile972PhefsTer9