Canonical Allele Identifier: CA326676
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53388
dbSNP Id: rs397508303

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117591959_117591965del , CM000669.2:g.117591959_117591965del GRCh38
NC_000007.13:g.117232013_117232019del , CM000669.1:g.117232013_117232019del GRCh37
NC_000007.12:g.117019249_117019255del NCBI36
NG_016465.4:g.131176_131182del , LRG_663:g.131176_131182del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1792_1798del ENSP00000497673.2:p.Lys598GlyfsTer11
ENST00000647978.2:c.*1506_*1512del ENSP00000497658.1:n.*1506_*1512del
ENST00000649781.2:c.1609_1615del ENSP00000497203.1:p.Lys537GlyfsTer11
ENST00000685018.2:c.1792_1798del ENSP00000510194.2:p.Lys598GlyfsTer11
ENST00000687278.2:c.1792_1798del ENSP00000509593.2:p.Lys598GlyfsTer11
ENST00000699585.1:c.1792_1798del ENSP00000514456.1:p.Lys598GlyfsTer11
ENST00000699598.1:c.1792_1798del ENSP00000514467.1:p.Lys598GlyfsTer11
ENST00000699599.1:c.1792_1798del ENSP00000514468.1:p.Lys598GlyfsTer11
ENST00000699600.1:c.1792_1798del ENSP00000514469.1:p.Lys598GlyfsTer11
ENST00000699601.1:c.*92_*98del ENSP00000514470.1:n.*92_*98del
ENST00000699602.1:c.1792_1798del ENSP00000514471.1:p.Lys598GlyfsTer11
ENST00000699604.1:c.*1616_*1622del ENSP00000514472.1:n.*1616_*1622del
ENST00000699605.1:c.1366_1372del ENSP00000514473.1:p.Lys456GlyfsTer11
ENST00000003084.11:c.1792_1798del MANE Select ENSP00000003084.6:p.Lys598GlyfsTer11
ENST00000647978.1:c.*1506_*1512del ENSP00000497658.1:n.*1506_*1512del
ENST00000648260.1:c.1402-10867_1402-10861del ENSP00000497957.1:n.1402-10867_1402-10861...
ENST00000649406.1:c.1609_1615del ENSP00000497965.1:p.Lys537GlyfsTer11
ENST00000649781.1:c.1609_1615del ENSP00000497203.1:p.Lys537GlyfsTer11
ENST00000003084.10:c.1792_1798del ENSP00000003084.6:p.Lys598GlyfsTer11
ENST00000426809.5:c.1702_1708del ENSP00000389119.1:p.Lys568GlyfsTer11
NM_000492.3:c.1792_1798del , LRG_663t1:c.1792_1798del NP_000483.3:p.Lys598GlyfsTer11
XM_011515751.1:c.1882_1888del XP_011514053.1:p.Lys628GlyfsTer11
XM_011515752.1:c.1882_1888del XP_011514054.1:p.Lys628GlyfsTer11
XM_011515753.1:c.1549_1555del XP_011514055.1:p.Lys517GlyfsTer11
XM_011515754.1:c.1549_1555del XP_011514056.1:p.Lys517GlyfsTer11
NM_000492.4:c.1792_1798del MANE Select NP_000483.3:p.Lys598GlyfsTer11