Canonical Allele Identifier: CA164962772
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs139314714

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117668140_117668141del , CM000669.2:g.117668140_117668141del GRCh38
NC_000007.13:g.117308194_117308195del , CM000669.1:g.117308194_117308195del GRCh37
NC_000007.12:g.117095430_117095431del NCBI36
NG_016465.4:g.207357_207358del , LRG_663:g.207357_207358del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*1684_*1685del ENSP00000497673.2:n.*1684_*1685del
ENST00000647978.2:c.*5189_*5190del ENSP00000497658.1:n.*5189_*5190del
ENST00000649781.2:c.*1032_*1033del ENSP00000497203.1:n.*1032_*1033del
ENST00000685018.2:c.*1688_*1689del ENSP00000510194.2:n.*1688_*1689del
ENST00000687278.2:c.*1052-339_*1052-338del ENSP00000509593.2:n.*1052-339_*1052-338del
ENST00000699585.1:c.*1944_*1945del ENSP00000514456.1:n.*1944_*1945del
ENST00000699598.1:c.*455-339_*455-338del ENSP00000514467.1:n.*455-339_*455-338del
ENST00000699599.1:c.*962-339_*962-338del ENSP00000514468.1:n.*962-339_*962-338del
ENST00000699600.1:c.*1060-339_*1060-338del ENSP00000514469.1:n.*1060-339_*1060-338del
ENST00000699601.1:c.*3850_*3851del ENSP00000514470.1:n.*3850_*3851del
ENST00000699602.1:c.*1032_*1033del ENSP00000514471.1:n.*1032_*1033del
ENST00000699604.1:c.*5299_*5300del ENSP00000514472.1:n.*5299_*5300del
ENST00000699605.1:c.*1032_*1033del ENSP00000514473.1:n.*1032_*1033del
ENST00000699606.1:n.4986_4987del
ENST00000685018.1:c.2339_2340del ENSP00000510194.1:n.2339_2340del
ENST00000687278.1:c.2186-339_2186-338del ENSP00000509593.1:n.2186-339_2186-338del
ENST00000689011.1:c.2317_2318del
ENST00000003084.11:c.*1032_*1033del MANE Select ENSP00000003084.6:n.*1032_*1033del
ENST00000647720.1:c.2925_2926del
ENST00000003084.10:c.*1032_*1033del ENSP00000003084.6:n.*1032_*1033del
ENST00000600166.1:c.368+2576_368+2577del
NM_000492.3:c.*1032_*1033del , LRG_663t1:c.*1032_*1033del NP_000483.3:n.*1032_*1033del
XM_011515751.1:c.*1032_*1033del XP_011514053.1:n.*1032_*1033del
XM_011515753.1:c.*1032_*1033del XP_011514055.1:n.*1032_*1033del
XM_011515754.1:c.*1032_*1033del XP_011514056.1:n.*1032_*1033del
NM_000492.4:c.*1032_*1033del MANE Select NP_000483.3:n.*1032_*1033del