Canonical Allele Identifier: CA326871

Gene: CFTR

Linked Data

• dbSNP Id: rs397508411
• MyVariant Identifiers: chr7:g.117242894_117242901del (hg19) ; chr7:g.117602840_117602847del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117602840_117602847del , CM000669.2:g.117602840_117602847del	GRCh38
NC_000007.13:g.117242894_117242901del , CM000669.1:g.117242894_117242901del	GRCh37
NC_000007.12:g.117030130_117030137del	NCBI36
NG_016465.4:g.142057_142064del , LRG_663:g.142057_142064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2634_2641del	ENSP00000497673.2:p.Leu878PhefsTer15
ENST00000647978.2:c.*2348_*2355del	ENSP00000497658.1:n.*2348_*2355del
ENST00000649781.2:c.2451_2458del	ENSP00000497203.1:p.Leu817PhefsTer15
ENST00000685018.2:c.2634_2641del	ENSP00000510194.2:p.Leu878PhefsTer15
ENST00000687278.2:c.2634_2641del	ENSP00000509593.2:p.Leu878PhefsTer15
ENST00000699585.1:c.2634_2641del	ENSP00000514456.1:p.Leu878PhefsTer15
ENST00000699598.1:c.2634_2641del	ENSP00000514467.1:p.Leu878PhefsTer15
ENST00000699599.1:c.2634_2641del	ENSP00000514468.1:p.Leu878PhefsTer15
ENST00000699600.1:c.2634_2641del	ENSP00000514469.1:p.Leu878PhefsTer15
ENST00000699601.1:c.*934_*941del	ENSP00000514470.1:n.*934_*941del
ENST00000699602.1:c.2634_2641del	ENSP00000514471.1:p.Leu878PhefsTer15
ENST00000699604.1:c.*2458_*2465del	ENSP00000514472.1:n.*2458_*2465del
ENST00000699605.1:c.2208_2215del	ENSP00000514473.1:p.Leu736PhefsTer15
ENST00000687278.1:c.225_232del	ENSP00000509593.1:p.Leu75PhefsTer15
ENST00000003084.11:c.2634_2641del MANE Select	ENSP00000003084.6:p.Leu878PhefsTer15
ENST00000647720.1:c.284_291del
ENST00000648260.1:c.1416_1423del	ENSP00000497957.1:p.Leu472PhefsTer15
ENST00000649406.1:c.2451_2458del	ENSP00000497965.1:p.Leu817PhefsTer15
ENST00000649781.1:c.2451_2458del	ENSP00000497203.1:p.Leu817PhefsTer15
ENST00000003084.10:c.2634_2641del	ENSP00000003084.6:p.Leu878PhefsTer15
ENST00000426809.5:c.2544_2551del	ENSP00000389119.1:p.Leu848PhefsTer15
NM_000492.3:c.2634_2641del , LRG_663t1:c.2634_2641del	NP_000483.3:p.Leu878PhefsTer15
XM_011515751.1:c.2724_2731del	XP_011514053.1:p.Leu908PhefsTer15
XM_011515752.1:c.2724_2731del	XP_011514054.1:p.Leu908PhefsTer15
XM_011515753.1:c.2391_2398del	XP_011514055.1:p.Leu797PhefsTer15
XM_011515754.1:c.2391_2398del	XP_011514056.1:p.Leu797PhefsTer15
NM_000492.4:c.2634_2641del MANE Select	NP_000483.3:p.Leu878PhefsTer15