Canonical Allele Identifier: CA2684619354

Gene: CFTR

Linked Data

• gnomAD v4: 7-117592041-ATTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592044_117592046del , CM000669.2:g.117592044_117592046del	GRCh38
NC_000007.13:g.117232098_117232100del , CM000669.1:g.117232098_117232100del	GRCh37
NC_000007.12:g.117019334_117019336del	NCBI36
NG_016465.4:g.131261_131263del , LRG_663:g.131261_131263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1877_1879del	ENSP00000497673.2:p.Phe626del
ENST00000647978.2:c.*1591_*1593del	ENSP00000497658.1:n.*1591_*1593del
ENST00000649781.2:c.1694_1696del	ENSP00000497203.1:p.Phe565del
ENST00000685018.2:c.1877_1879del	ENSP00000510194.2:p.Phe626del
ENST00000687278.2:c.1877_1879del	ENSP00000509593.2:p.Phe626del
ENST00000699585.1:c.1877_1879del	ENSP00000514456.1:p.Phe626del
ENST00000699598.1:c.1877_1879del	ENSP00000514467.1:p.Phe626del
ENST00000699599.1:c.1877_1879del	ENSP00000514468.1:p.Phe626del
ENST00000699600.1:c.1877_1879del	ENSP00000514469.1:p.Phe626del
ENST00000699601.1:c.*177_*179del	ENSP00000514470.1:n.*177_*179del
ENST00000699602.1:c.1877_1879del	ENSP00000514471.1:p.Phe626del
ENST00000699604.1:c.*1701_*1703del	ENSP00000514472.1:n.*1701_*1703del
ENST00000699605.1:c.1451_1453del	ENSP00000514473.1:p.Phe484del
ENST00000003084.11:c.1877_1879del MANE Select	ENSP00000003084.6:p.Phe626del
ENST00000647978.1:c.*1591_*1593del	ENSP00000497658.1:n.*1591_*1593del
ENST00000648260.1:c.1402-10782_1402-10780del	ENSP00000497957.1:n.1402-10782_1402-10780del
ENST00000649406.1:c.1694_1696del	ENSP00000497965.1:p.Phe565del
ENST00000649781.1:c.1694_1696del	ENSP00000497203.1:p.Phe565del
ENST00000003084.10:c.1877_1879del	ENSP00000003084.6:p.Phe626del
ENST00000426809.5:c.1787_1789del	ENSP00000389119.1:p.Phe596del
NM_000492.3:c.1877_1879del , LRG_663t1:c.1877_1879del	NP_000483.3:p.Phe626del
XM_011515751.1:c.1967_1969del	XP_011514053.1:p.Phe656del
XM_011515752.1:c.1967_1969del	XP_011514054.1:p.Phe656del
XM_011515753.1:c.1634_1636del	XP_011514055.1:p.Phe545del
XM_011515754.1:c.1634_1636del	XP_011514056.1:p.Phe545del
NM_000492.4:c.1877_1879del MANE Select	NP_000483.3:p.Phe626del