Canonical Allele Identifier: CA2684621064

Gene: CFTR

Linked Data

• gnomAD v4: 7-117665558-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665563del , CM000669.2:g.117665563del	GRCh38
NC_000007.13:g.117305617del , CM000669.1:g.117305617del	GRCh37
NC_000007.12:g.117092853del	NCBI36
NG_016465.4:g.204780del , LRG_663:g.204780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*450del	ENSP00000497673.2:n.*450del
ENST00000647978.2:c.*3955del	ENSP00000497658.1:n.*3955del
ENST00000649781.2:c.4058del	ENSP00000497203.1:p.Leu1353TrpfsTer3
ENST00000685018.2:c.*454del	ENSP00000510194.2:n.*454del
ENST00000687278.2:c.*894del	ENSP00000509593.2:n.*894del
ENST00000699585.1:c.*450del	ENSP00000514456.1:n.*450del
ENST00000699598.1:c.4241del	ENSP00000514467.1:p.Leu1414Ter
ENST00000699599.1:c.*454del	ENSP00000514468.1:n.*454del
ENST00000699600.1:c.*902del	ENSP00000514469.1:n.*902del
ENST00000699601.1:c.*2616del	ENSP00000514470.1:n.*2616del
ENST00000699602.1:c.4235del	ENSP00000514471.1:p.Leu1412TrpfsTer3
ENST00000699604.1:c.*4065del	ENSP00000514472.1:n.*4065del
ENST00000699605.1:c.3815del	ENSP00000514473.1:p.Leu1272TrpfsTer3
ENST00000699606.1:n.2409del
ENST00000685018.1:c.1105del	ENSP00000510194.1:n.1105del
ENST00000687278.1:c.2028del	ENSP00000509593.1:n.2028del
ENST00000689011.1:c.823del
ENST00000003084.11:c.4241del MANE Select	ENSP00000003084.6:p.Leu1414TrpfsTer3
ENST00000647720.1:c.1691del
ENST00000649781.1:c.4058del	ENSP00000497203.1:p.Leu1353TrpfsTer3
ENST00000003084.10:c.4241del	ENSP00000003084.6:p.Leu1414TrpfsTer3
ENST00000426809.5:c.4151del	ENSP00000389119.1:p.Leu1384TrpfsTer3
ENST00000600166.1:c.367del
NM_000492.3:c.4241del , LRG_663t1:c.4241del	NP_000483.3:p.Leu1414TrpfsTer3
XM_011515751.1:c.4331del	XP_011514053.1:p.Leu1444TrpfsTer3
XM_011515752.1:c.4331del	XP_011514054.1:p.Leu1444CysfsTer10
XM_011515753.1:c.3998del	XP_011514055.1:p.Leu1333TrpfsTer3
XM_011515754.1:c.3998del	XP_011514056.1:p.Leu1333TrpfsTer3
NM_000492.4:c.4241del MANE Select	NP_000483.3:p.Leu1414TrpfsTer3