Canonical Allele Identifier: CA1737392339

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614840_117614841delinsTG , CM000669.2:g.117614840_117614841delinsTG	GRCh38
NC_000007.13:g.117254894_117254895delinsTG , CM000669.1:g.117254894_117254895delinsTG	GRCh37
NC_000007.12:g.117042130_117042131delinsTG	NCBI36
NG_016465.4:g.154057_154058delinsTG , LRG_663:g.154057_154058delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3468+127_3468+128delinsTG	ENSP00000497673.2:n.3468+127_3468+128delinsTG
ENST00000647978.2:c.*3182+127_*3182+128delinsTG	ENSP00000497658.1:n.*3182+127_*3182+128delinsTG
ENST00000649781.2:c.3285+127_3285+128delinsTG	ENSP00000497203.1:n.3285+127_3285+128delinsTG
ENST00000685018.2:c.3468+127_3468+128delinsTG	ENSP00000510194.2:n.3468+127_3468+128delinsTG
ENST00000687278.2:c.3468+127_3468+128delinsTG	ENSP00000509593.2:n.3468+127_3468+128delinsTG
ENST00000699585.1:c.3468+127_3468+128delinsTG	ENSP00000514456.1:n.3468+127_3468+128delinsTG
ENST00000699598.1:c.3468+127_3468+128delinsTG	ENSP00000514467.1:n.3468+127_3468+128delinsTG
ENST00000699599.1:c.3468+127_3468+128delinsTG	ENSP00000514468.1:n.3468+127_3468+128delinsTG
ENST00000699600.1:c.3468+127_3468+128delinsTG	ENSP00000514469.1:n.3468+127_3468+128delinsTG
ENST00000699601.1:c.*1843+127_*1843+128delinsTG	ENSP00000514470.1:n.*1843+127_*1843+128delinsTG
ENST00000699602.1:c.3462+127_3462+128delinsTG	ENSP00000514471.1:n.3462+127_3462+128delinsTG
ENST00000699604.1:c.*3292+127_*3292+128delinsTG	ENSP00000514472.1:n.*3292+127_*3292+128delinsTG
ENST00000699605.1:c.3042+127_3042+128delinsTG	ENSP00000514473.1:n.3042+127_3042+128delinsTG
ENST00000685018.1:c.216+127_216+128delinsTG	ENSP00000510194.1:n.216+127_216+128delinsTG
ENST00000687278.1:c.1059+127_1059+128delinsTG	ENSP00000509593.1:n.1059+127_1059+128delinsTG
ENST00000689011.1:c.50+127_50+128delinsTG
ENST00000003084.11:c.3468+127_3468+128delinsTG MANE Select	ENSP00000003084.6:n.3468+127_3468+128delinsTG
ENST00000647720.1:c.1118+127_1118+128delinsTG
ENST00000648260.1:c.2250+127_2250+128delinsTG	ENSP00000497957.1:n.2250+127_2250+128delinsTG
ENST00000649406.1:c.3285+127_3285+128delinsTG	ENSP00000497965.1:n.3285+127_3285+128delinsTG
ENST00000649781.1:c.3285+127_3285+128delinsTG	ENSP00000497203.1:n.3285+127_3285+128delinsTG
ENST00000003084.10:c.3468+127_3468+128delinsTG	ENSP00000003084.6:n.3468+127_3468+128delinsTG
ENST00000426809.5:c.3378+127_3378+128delinsTG	ENSP00000389119.1:n.3378+127_3378+128delinsTG
ENST00000468795.1:c.293+127_293+128delinsTG
NM_000492.3:c.3468+127_3468+128delinsTG , LRG_663t1:c.3468+127_3468+128delinsTG	NP_000483.3:n.3468+127_3468+128delinsTG
XM_011515751.1:c.3558+127_3558+128delinsTG	XP_011514053.1:n.3558+127_3558+128delinsTG
XM_011515752.1:c.3558+127_3558+128delinsTG	XP_011514054.1:n.3558+127_3558+128delinsTG
XM_011515753.1:c.3225+127_3225+128delinsTG	XP_011514055.1:n.3225+127_3225+128delinsTG
XM_011515754.1:c.3225+127_3225+128delinsTG	XP_011514056.1:n.3225+127_3225+128delinsTG
NM_000492.4:c.3468+127_3468+128delinsTG MANE Select	NP_000483.3:n.3468+127_3468+128delinsTG