Canonical Allele Identifier: CA1737392948

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590779_117590783delinsTGTTA , CM000669.2:g.117590779_117590783delinsTGTTA	GRCh38
NC_000007.13:g.117230833_117230837delinsTGTTA , CM000669.1:g.117230833_117230837delinsTGTTA	GRCh37
NC_000007.12:g.117018069_117018073delinsTGTTA	NCBI36
NG_016465.4:g.129996_130000delinsTGTTA , LRG_663:g.129996_130000delinsTGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1766+340_1766+344delinsTGTTA	ENSP00000497673.2:n.1766+340_1766+344delinsTGTTA
ENST00000647978.2:c.*1480+340_*1480+344delinsTGTTA	ENSP00000497658.1:n.*1480+340_*1480+344delinsTGTTA
ENST00000649781.2:c.1583+340_1583+344delinsTGTTA	ENSP00000497203.1:n.1583+340_1583+344delinsTGTTA
ENST00000685018.2:c.1766+340_1766+344delinsTGTTA	ENSP00000510194.2:n.1766+340_1766+344delinsTGTTA
ENST00000687278.2:c.1766+340_1766+344delinsTGTTA	ENSP00000509593.2:n.1766+340_1766+344delinsTGTTA
ENST00000699585.1:c.1766+340_1766+344delinsTGTTA	ENSP00000514456.1:n.1766+340_1766+344delinsTGTTA
ENST00000699598.1:c.1766+340_1766+344delinsTGTTA	ENSP00000514467.1:n.1766+340_1766+344delinsTGTTA
ENST00000699599.1:c.1766+340_1766+344delinsTGTTA	ENSP00000514468.1:n.1766+340_1766+344delinsTGTTA
ENST00000699600.1:c.1766+340_1766+344delinsTGTTA	ENSP00000514469.1:n.1766+340_1766+344delinsTGTTA
ENST00000699601.1:c.*66+340_*66+344delinsTGTTA	ENSP00000514470.1:n.*66+340_*66+344delinsTGTTA
ENST00000699602.1:c.1766+340_1766+344delinsTGTTA	ENSP00000514471.1:n.1766+340_1766+344delinsTGTTA
ENST00000699604.1:c.*1590+340_*1590+344delinsTGTTA	ENSP00000514472.1:n.*1590+340_*1590+344delinsTGTTA
ENST00000699605.1:c.1340+340_1340+344delinsTGTTA	ENSP00000514473.1:n.1340+340_1340+344delinsTGTTA
ENST00000003084.11:c.1766+340_1766+344delinsTGTTA MANE Select	ENSP00000003084.6:n.1766+340_1766+344delinsTGTTA
ENST00000647978.1:c.*1480+340_*1480+344delinsTGTTA	ENSP00000497658.1:n.*1480+340_*1480+344delinsTGTTA
ENST00000648260.1:c.1402-12047_1402-12043delinsTGTTA	ENSP00000497957.1:n.1402-12047_1402-12043delinsTGTTA
ENST00000649406.1:c.1583+340_1583+344delinsTGTTA	ENSP00000497965.1:n.1583+340_1583+344delinsTGTTA
ENST00000649781.1:c.1583+340_1583+344delinsTGTTA	ENSP00000497203.1:n.1583+340_1583+344delinsTGTTA
ENST00000003084.10:c.1766+340_1766+344delinsTGTTA	ENSP00000003084.6:n.1766+340_1766+344delinsTGTTA
ENST00000426809.5:c.1676+340_1676+344delinsTGTTA	ENSP00000389119.1:n.1676+340_1676+344delinsTGTTA
NM_000492.3:c.1766+340_1766+344delinsTGTTA , LRG_663t1:c.1766+340_1766+344delinsTGTTA	NP_000483.3:n.1766+340_1766+344delinsTGTTA
XM_011515751.1:c.1856+340_1856+344delinsTGTTA	XP_011514053.1:n.1856+340_1856+344delinsTGTTA
XM_011515752.1:c.1856+340_1856+344delinsTGTTA	XP_011514054.1:n.1856+340_1856+344delinsTGTTA
XM_011515753.1:c.1523+340_1523+344delinsTGTTA	XP_011514055.1:n.1523+340_1523+344delinsTGTTA
XM_011515754.1:c.1523+340_1523+344delinsTGTTA	XP_011514056.1:n.1523+340_1523+344delinsTGTTA
NM_000492.4:c.1766+340_1766+344delinsTGTTA MANE Select	NP_000483.3:n.1766+340_1766+344delinsTGTTA