Canonical Allele Identifier: CA1737392349

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614857_117614858delinsCT , CM000669.2:g.117614857_117614858delinsCT	GRCh38
NC_000007.13:g.117254911_117254912delinsCT , CM000669.1:g.117254911_117254912delinsCT	GRCh37
NC_000007.12:g.117042147_117042148delinsCT	NCBI36
NG_016465.4:g.154074_154075delinsCT , LRG_663:g.154074_154075delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3468+144_3468+145delinsCT	ENSP00000497673.2:n.3468+144_3468+145delinsCT
ENST00000647978.2:c.*3182+144_*3182+145delinsCT	ENSP00000497658.1:n.*3182+144_*3182+145delinsCT
ENST00000649781.2:c.3285+144_3285+145delinsCT	ENSP00000497203.1:n.3285+144_3285+145delinsCT
ENST00000685018.2:c.3468+144_3468+145delinsCT	ENSP00000510194.2:n.3468+144_3468+145delinsCT
ENST00000687278.2:c.3468+144_3468+145delinsCT	ENSP00000509593.2:n.3468+144_3468+145delinsCT
ENST00000699585.1:c.3468+144_3468+145delinsCT	ENSP00000514456.1:n.3468+144_3468+145delinsCT
ENST00000699598.1:c.3468+144_3468+145delinsCT	ENSP00000514467.1:n.3468+144_3468+145delinsCT
ENST00000699599.1:c.3468+144_3468+145delinsCT	ENSP00000514468.1:n.3468+144_3468+145delinsCT
ENST00000699600.1:c.3468+144_3468+145delinsCT	ENSP00000514469.1:n.3468+144_3468+145delinsCT
ENST00000699601.1:c.*1843+144_*1843+145delinsCT	ENSP00000514470.1:n.*1843+144_*1843+145delinsCT
ENST00000699602.1:c.3462+144_3462+145delinsCT	ENSP00000514471.1:n.3462+144_3462+145delinsCT
ENST00000699604.1:c.*3292+144_*3292+145delinsCT	ENSP00000514472.1:n.*3292+144_*3292+145delinsCT
ENST00000699605.1:c.3042+144_3042+145delinsCT	ENSP00000514473.1:n.3042+144_3042+145delinsCT
ENST00000685018.1:c.216+144_216+145delinsCT	ENSP00000510194.1:n.216+144_216+145delinsCT
ENST00000687278.1:c.1059+144_1059+145delinsCT	ENSP00000509593.1:n.1059+144_1059+145delinsCT
ENST00000689011.1:c.50+144_50+145delinsCT
ENST00000003084.11:c.3468+144_3468+145delinsCT MANE Select	ENSP00000003084.6:n.3468+144_3468+145delinsCT
ENST00000647720.1:c.1118+144_1118+145delinsCT
ENST00000648260.1:c.2250+144_2250+145delinsCT	ENSP00000497957.1:n.2250+144_2250+145delinsCT
ENST00000649406.1:c.3285+144_3285+145delinsCT	ENSP00000497965.1:n.3285+144_3285+145delinsCT
ENST00000649781.1:c.3285+144_3285+145delinsCT	ENSP00000497203.1:n.3285+144_3285+145delinsCT
ENST00000003084.10:c.3468+144_3468+145delinsCT	ENSP00000003084.6:n.3468+144_3468+145delinsCT
ENST00000426809.5:c.3378+144_3378+145delinsCT	ENSP00000389119.1:n.3378+144_3378+145delinsCT
ENST00000468795.1:c.293+144_293+145delinsCT
NM_000492.3:c.3468+144_3468+145delinsCT , LRG_663t1:c.3468+144_3468+145delinsCT	NP_000483.3:n.3468+144_3468+145delinsCT
XM_011515751.1:c.3558+144_3558+145delinsCT	XP_011514053.1:n.3558+144_3558+145delinsCT
XM_011515752.1:c.3558+144_3558+145delinsCT	XP_011514054.1:n.3558+144_3558+145delinsCT
XM_011515753.1:c.3225+144_3225+145delinsCT	XP_011514055.1:n.3225+144_3225+145delinsCT
XM_011515754.1:c.3225+144_3225+145delinsCT	XP_011514056.1:n.3225+144_3225+145delinsCT
NM_000492.4:c.3468+144_3468+145delinsCT MANE Select	NP_000483.3:n.3468+144_3468+145delinsCT