Canonical Allele Identifier: CA2580076344

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1706018
• ClinVar RCV Id: RCV002284548

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627655del , CM000669.2:g.117627655del	GRCh38
NC_000007.13:g.117267709del , CM000669.1:g.117267709del	GRCh37
NC_000007.12:g.117054945del	NCBI36
NG_016465.4:g.166872del , LRG_663:g.166872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+85del	ENSP00000497673.2:n.3517+85del
ENST00000647978.2:c.*3316del	ENSP00000497658.1:n.*3316del
ENST00000649781.2:c.3419del	ENSP00000497203.1:p.Asp1140ValfsTer10
ENST00000685018.2:c.3602del	ENSP00000510194.2:p.Asp1201ValfsTer10
ENST00000687278.2:c.*255del	ENSP00000509593.2:n.*255del
ENST00000699585.1:c.3517+85del	ENSP00000514456.1:n.3517+85del
ENST00000699598.1:c.3602del	ENSP00000514467.1:p.Asp1201ValfsTer10
ENST00000699599.1:c.3602del	ENSP00000514468.1:p.Asp1201ValfsTer10
ENST00000699600.1:c.*263del	ENSP00000514469.1:n.*263del
ENST00000699601.1:c.*1977del	ENSP00000514470.1:n.*1977del
ENST00000699602.1:c.3596del	ENSP00000514471.1:p.Asp1199ValfsTer10
ENST00000699604.1:c.*3426del	ENSP00000514472.1:n.*3426del
ENST00000699605.1:c.3176del	ENSP00000514473.1:p.Asp1059ValfsTer10
ENST00000685018.1:c.350del	ENSP00000510194.1:p.Asp117ValfsTer10
ENST00000687278.1:c.1389del	ENSP00000509593.1:n.1389del
ENST00000689011.1:c.184del
ENST00000003084.11:c.3602del MANE Select	ENSP00000003084.6:p.Asp1201ValfsTer10
ENST00000647720.1:c.1167+85del
ENST00000648260.1:c.2384del	ENSP00000497957.1:p.Asp795ValfsTer10
ENST00000649406.1:c.3419del	ENSP00000497965.1:p.Asp1140ValfsTer10
ENST00000649781.1:c.3419del	ENSP00000497203.1:p.Asp1140ValfsTer10
ENST00000003084.10:c.3602del	ENSP00000003084.6:p.Asp1201ValfsTer10
ENST00000426809.5:c.3512del	ENSP00000389119.1:p.Asp1171ValfsTer10
ENST00000468795.1:c.427del
NM_000492.3:c.3602del , LRG_663t1:c.3602del	NP_000483.3:p.Asp1201ValfsTer10
XM_011515751.1:c.3692del	XP_011514053.1:p.Asp1231ValfsTer10
XM_011515752.1:c.3692del	XP_011514054.1:p.Asp1231ValfsTer10
XM_011515753.1:c.3359del	XP_011514055.1:p.Asp1120ValfsTer10
XM_011515754.1:c.3359del	XP_011514056.1:p.Asp1120ValfsTer10
NM_000492.4:c.3602del MANE Select	NP_000483.3:p.Asp1201ValfsTer10