Canonical Allele Identifier: CA913190199

Gene: CFTR

Linked Data

• ClinVar Variation Id: 618915
• ClinVar RCV Id: RCV000757814
• dbSNP Id: rs1562911739

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603753_117603756del , CM000669.2:g.117603753_117603756del	GRCh38
NC_000007.13:g.117243807_117243810del , CM000669.1:g.117243807_117243810del	GRCh37
NC_000007.12:g.117031043_117031046del	NCBI36
NG_016465.4:g.142970_142973del , LRG_663:g.142970_142973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2879_2882del	ENSP00000497673.2:p.Pro960ArgfsTer7
ENST00000647978.2:c.*2593_*2596del	ENSP00000497658.1:n.*2593_*2596del
ENST00000649781.2:c.2696_2699del	ENSP00000497203.1:p.Pro899ArgfsTer7
ENST00000685018.2:c.2879_2882del	ENSP00000510194.2:p.Pro960ArgfsTer7
ENST00000687278.2:c.2879_2882del	ENSP00000509593.2:p.Pro960ArgfsTer7
ENST00000699585.1:c.2879_2882del	ENSP00000514456.1:p.Pro960ArgfsTer7
ENST00000699598.1:c.2879_2882del	ENSP00000514467.1:p.Pro960ArgfsTer7
ENST00000699599.1:c.2879_2882del	ENSP00000514468.1:p.Pro960ArgfsTer7
ENST00000699600.1:c.2879_2882del	ENSP00000514469.1:p.Pro960ArgfsTer7
ENST00000699601.1:c.*1179_*1182del	ENSP00000514470.1:n.*1179_*1182del
ENST00000699602.1:c.2879_2882del	ENSP00000514471.1:p.Pro960ArgfsTer7
ENST00000699604.1:c.*2703_*2706del	ENSP00000514472.1:n.*2703_*2706del
ENST00000699605.1:c.2453_2456del	ENSP00000514473.1:p.Pro818ArgfsTer7
ENST00000687278.1:c.470_473del	ENSP00000509593.1:p.Pro157ArgfsTer7
ENST00000003084.11:c.2879_2882del MANE Select	ENSP00000003084.6:p.Pro960ArgfsTer7
ENST00000647720.1:c.529_532del
ENST00000648260.1:c.1661_1664del	ENSP00000497957.1:p.Pro554ArgfsTer7
ENST00000649406.1:c.2696_2699del	ENSP00000497965.1:p.Pro899ArgfsTer7
ENST00000649781.1:c.2696_2699del	ENSP00000497203.1:p.Pro899ArgfsTer7
ENST00000003084.10:c.2879_2882del	ENSP00000003084.6:p.Pro960ArgfsTer7
ENST00000426809.5:c.2789_2792del	ENSP00000389119.1:p.Pro930ArgfsTer7
NM_000492.3:c.2879_2882del , LRG_663t1:c.2879_2882del	NP_000483.3:p.Pro960ArgfsTer7
XM_011515751.1:c.2969_2972del	XP_011514053.1:p.Pro990ArgfsTer7
XM_011515752.1:c.2969_2972del	XP_011514054.1:p.Pro990ArgfsTer7
XM_011515753.1:c.2636_2639del	XP_011514055.1:p.Pro879ArgfsTer7
XM_011515754.1:c.2636_2639del	XP_011514056.1:p.Pro879ArgfsTer7
NM_000492.4:c.2879_2882del MANE Select	NP_000483.3:p.Pro960ArgfsTer7