Canonical Allele Identifier: CA326724
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53421
dbSNP Id: rs397508325

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592153_117592156del , CM000669.2:g.117592153_117592156del GRCh38
NC_000007.13:g.117232207_117232210del , CM000669.1:g.117232207_117232210del GRCh37
NC_000007.12:g.117019443_117019446del NCBI36
NG_016465.4:g.131370_131373del , LRG_663:g.131370_131373del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1986_1989del ENSP00000497673.2:p.Thr663ArgfsTer8
ENST00000647978.2:c.*1700_*1703del ENSP00000497658.1:n.*1700_*1703del
ENST00000649781.2:c.1803_1806del ENSP00000497203.1:p.Thr602ArgfsTer8
ENST00000685018.2:c.1986_1989del ENSP00000510194.2:p.Thr663ArgfsTer8
ENST00000687278.2:c.1986_1989del ENSP00000509593.2:p.Thr663ArgfsTer8
ENST00000699585.1:c.1986_1989del ENSP00000514456.1:p.Thr663ArgfsTer8
ENST00000699598.1:c.1986_1989del ENSP00000514467.1:p.Thr663ArgfsTer8
ENST00000699599.1:c.1986_1989del ENSP00000514468.1:p.Thr663ArgfsTer8
ENST00000699600.1:c.1986_1989del ENSP00000514469.1:p.Thr663ArgfsTer8
ENST00000699601.1:c.*286_*289del ENSP00000514470.1:n.*286_*289del
ENST00000699602.1:c.1986_1989del ENSP00000514471.1:p.Thr663ArgfsTer8
ENST00000699604.1:c.*1810_*1813del ENSP00000514472.1:n.*1810_*1813del
ENST00000699605.1:c.1560_1563del ENSP00000514473.1:p.Thr521ArgfsTer8
ENST00000003084.11:c.1986_1989del MANE Select ENSP00000003084.6:p.Thr663ArgfsTer8
ENST00000647978.1:c.*1700_*1703del ENSP00000497658.1:n.*1700_*1703del
ENST00000648260.1:c.1402-10673_1402-10670del ENSP00000497957.1:n.1402-10673_1402-10670...
ENST00000649406.1:c.1803_1806del ENSP00000497965.1:p.Thr602ArgfsTer8
ENST00000649781.1:c.1803_1806del ENSP00000497203.1:p.Thr602ArgfsTer8
ENST00000003084.10:c.1986_1989del ENSP00000003084.6:p.Thr663ArgfsTer8
ENST00000426809.5:c.1896_1899del ENSP00000389119.1:p.Thr633ArgfsTer8
NM_000492.3:c.1986_1989del , LRG_663t1:c.1986_1989del NP_000483.3:p.Thr663ArgfsTer8
XM_011515751.1:c.2076_2079del XP_011514053.1:p.Thr693ArgfsTer8
XM_011515752.1:c.2076_2079del XP_011514054.1:p.Thr693ArgfsTer8
XM_011515753.1:c.1743_1746del XP_011514055.1:p.Thr582ArgfsTer8
XM_011515754.1:c.1743_1746del XP_011514056.1:p.Thr582ArgfsTer8
NM_000492.4:c.1986_1989del MANE Select NP_000483.3:p.Thr663ArgfsTer8