Canonical Allele Identifier: CA577224055

Gene: CFTR

Linked Data

• gnomAD v2: 7-117282620-GAGGA-G
• MyVariant Identifiers: chr7:g.117282621_117282624del (hg19) ; chr7:g.117642567_117642570del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642568_117642571del , CM000669.2:g.117642568_117642571del	GRCh38
NC_000007.13:g.117282622_117282625del , CM000669.1:g.117282622_117282625del	GRCh37
NC_000007.12:g.117069858_117069861del	NCBI36
NG_016465.4:g.181785_181788del , LRG_663:g.181785_181788del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*57_*60del	ENSP00000497673.2:n.*57_*60del
ENST00000647978.2:c.*3562_*3565del	ENSP00000497658.1:n.*3562_*3565del
ENST00000649781.2:c.3665_3668del	ENSP00000497203.1:p.Arg1222LysfsTer5
ENST00000685018.2:c.3848_3851del	ENSP00000510194.2:p.Arg1283LysfsTer5
ENST00000687278.2:c.*501_*504del	ENSP00000509593.2:n.*501_*504del
ENST00000699585.1:c.*57_*60del	ENSP00000514456.1:n.*57_*60del
ENST00000699598.1:c.3848_3851del	ENSP00000514467.1:p.Arg1283LysfsTer5
ENST00000699599.1:c.3848_3851del	ENSP00000514468.1:p.Arg1283LysfsTer5
ENST00000699600.1:c.*509_*512del	ENSP00000514469.1:n.*509_*512del
ENST00000699601.1:c.*2223_*2226del	ENSP00000514470.1:n.*2223_*2226del
ENST00000699602.1:c.3842_3845del	ENSP00000514471.1:p.Arg1281LysfsTer5
ENST00000699604.1:c.*3672_*3675del	ENSP00000514472.1:n.*3672_*3675del
ENST00000699605.1:c.3422_3425del	ENSP00000514473.1:p.Arg1141LysfsTer5
ENST00000685018.1:c.596_599del	ENSP00000510194.1:p.Arg199LysfsTer5
ENST00000687278.1:c.1635_1638del	ENSP00000509593.1:n.1635_1638del
ENST00000689011.1:c.430_433del
ENST00000003084.11:c.3848_3851del MANE Select	ENSP00000003084.6:p.Arg1283LysfsTer5
ENST00000647720.1:c.1298_1301del
ENST00000649781.1:c.3665_3668del	ENSP00000497203.1:p.Arg1222LysfsTer5
ENST00000003084.10:c.3848_3851del	ENSP00000003084.6:p.Arg1283LysfsTer5
ENST00000426809.5:c.3758_3761del	ENSP00000389119.1:p.Arg1253LysfsTer5
NM_000492.3:c.3848_3851del , LRG_663t1:c.3848_3851del	NP_000483.3:p.Arg1283LysfsTer5
XM_011515751.1:c.3938_3941del	XP_011514053.1:p.Arg1313LysfsTer5
XM_011515752.1:c.3938_3941del	XP_011514054.1:p.Arg1313LysfsTer5
XM_011515753.1:c.3605_3608del	XP_011514055.1:p.Arg1202LysfsTer5
XM_011515754.1:c.3605_3608del	XP_011514056.1:p.Arg1202LysfsTer5
NM_000492.4:c.3848_3851del MANE Select	NP_000483.3:p.Arg1283LysfsTer5