Canonical Allele Identifier: CA1737392493

Gene: CFTR

Linked Data

• dbSNP Id: rs1792008529

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590419del , CM000669.2:g.117590419del	GRCh38
NC_000007.13:g.117230473del , CM000669.1:g.117230473del	GRCh37
NC_000007.12:g.117017709del	NCBI36
NG_016465.4:g.129636del , LRG_663:g.129636del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1746del	ENSP00000497673.2:p.Glu583LysfsTer12
ENST00000647978.2:c.*1460del	ENSP00000497658.1:n.*1460del
ENST00000649781.2:c.1563del	ENSP00000497203.1:p.Glu522LysfsTer12
ENST00000685018.2:c.1746del	ENSP00000510194.2:p.Glu583LysfsTer12
ENST00000687278.2:c.1746del	ENSP00000509593.2:p.Glu583LysfsTer12
ENST00000699585.1:c.1746del	ENSP00000514456.1:p.Glu583LysfsTer12
ENST00000699598.1:c.1746del	ENSP00000514467.1:p.Glu583LysfsTer12
ENST00000699599.1:c.1746del	ENSP00000514468.1:p.Glu583LysfsTer12
ENST00000699600.1:c.1746del	ENSP00000514469.1:p.Glu583LysfsTer12
ENST00000699601.1:c.*46del	ENSP00000514470.1:n.*46del
ENST00000699602.1:c.1746del	ENSP00000514471.1:p.Glu583LysfsTer12
ENST00000699604.1:c.*1570del	ENSP00000514472.1:n.*1570del
ENST00000699605.1:c.1320del	ENSP00000514473.1:p.Glu441LysfsTer12
ENST00000003084.11:c.1746del MANE Select	ENSP00000003084.6:p.Glu583LysfsTer12
ENST00000647978.1:c.*1460del	ENSP00000497658.1:n.*1460del
ENST00000648260.1:c.1402-12407del	ENSP00000497957.1:n.1402-12407del
ENST00000649406.1:c.1563del	ENSP00000497965.1:p.Glu522LysfsTer12
ENST00000649781.1:c.1563del	ENSP00000497203.1:p.Glu522LysfsTer12
ENST00000003084.10:c.1746del	ENSP00000003084.6:p.Glu583LysfsTer12
ENST00000426809.5:c.1656del	ENSP00000389119.1:p.Glu553LysfsTer12
NM_000492.3:c.1746del , LRG_663t1:c.1746del	NP_000483.3:p.Glu583LysfsTer12
XM_011515751.1:c.1836del	XP_011514053.1:p.Glu613LysfsTer12
XM_011515752.1:c.1836del	XP_011514054.1:p.Glu613LysfsTer12
XM_011515753.1:c.1503del	XP_011514055.1:p.Glu502LysfsTer12
XM_011515754.1:c.1503del	XP_011514056.1:p.Glu502LysfsTer12
NM_000492.4:c.1746del MANE Select	NP_000483.3:p.Glu583LysfsTer12