Canonical Allele Identifier: CA577224058
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1319386108

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642571_117642575del , CM000669.2:g.117642571_117642575del GRCh38
NC_000007.13:g.117282625_117282629del , CM000669.1:g.117282625_117282629del GRCh37
NC_000007.12:g.117069861_117069865del NCBI36
NG_016465.4:g.181788_181792del , LRG_663:g.181788_181792del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*60_*64del ENSP00000497673.2:n.*60_*64del
ENST00000647978.2:c.*3565_*3569del ENSP00000497658.1:n.*3565_*3569del
ENST00000649781.2:c.3668_3672del ENSP00000497203.1:p.Lys1223IlefsTer16
ENST00000685018.2:c.3851_3855del ENSP00000510194.2:p.Lys1284IlefsTer?
ENST00000687278.2:c.*504_*508del ENSP00000509593.2:n.*504_*508del
ENST00000699585.1:c.*60_*64del ENSP00000514456.1:n.*60_*64del
ENST00000699598.1:c.3851_3855del ENSP00000514467.1:p.Lys1284IlefsTer16
ENST00000699599.1:c.3851_3855del ENSP00000514468.1:p.Lys1284IlefsTer?
ENST00000699600.1:c.*512_*516del ENSP00000514469.1:n.*512_*516del
ENST00000699601.1:c.*2226_*2230del ENSP00000514470.1:n.*2226_*2230del
ENST00000699602.1:c.3845_3849del ENSP00000514471.1:p.Lys1282IlefsTer16
ENST00000699604.1:c.*3675_*3679del ENSP00000514472.1:n.*3675_*3679del
ENST00000699605.1:c.3425_3429del ENSP00000514473.1:p.Lys1142IlefsTer16
ENST00000685018.1:c.599_603del ENSP00000510194.1:p.Lys200IlefsTer?
ENST00000687278.1:c.1638_1642del ENSP00000509593.1:n.1638_1642del
ENST00000689011.1:c.433_437del
ENST00000003084.11:c.3851_3855del MANE Select ENSP00000003084.6:p.Lys1284IlefsTer16
ENST00000647720.1:c.1301_1305del
ENST00000649781.1:c.3668_3672del ENSP00000497203.1:p.Lys1223IlefsTer16
ENST00000003084.10:c.3851_3855del ENSP00000003084.6:p.Lys1284IlefsTer16
ENST00000426809.5:c.3761_3765del ENSP00000389119.1:p.Lys1254IlefsTer16
NM_000492.3:c.3851_3855del , LRG_663t1:c.3851_3855del NP_000483.3:p.Lys1284IlefsTer16
XM_011515751.1:c.3941_3945del XP_011514053.1:p.Lys1314IlefsTer16
XM_011515752.1:c.3941_3945del XP_011514054.1:p.Lys1314IlefsTer16
XM_011515753.1:c.3608_3612del XP_011514055.1:p.Lys1203IlefsTer16
XM_011515754.1:c.3608_3612del XP_011514056.1:p.Lys1203IlefsTer16
NM_000492.4:c.3851_3855del MANE Select NP_000483.3:p.Lys1284IlefsTer16