Canonical Allele Identifier: CA2684619921

Gene: CFTR

Linked Data

• gnomAD v4: 7-117614803-TATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614804_117614806del , CM000669.2:g.117614804_117614806del	GRCh38
NC_000007.13:g.117254858_117254860del , CM000669.1:g.117254858_117254860del	GRCh37
NC_000007.12:g.117042094_117042096del	NCBI36
NG_016465.4:g.154021_154023del , LRG_663:g.154021_154023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3468+91_3468+93del	ENSP00000497673.2:n.3468+91_3468+93del
ENST00000647978.2:c.*3182+91_*3182+93del	ENSP00000497658.1:n.*3182+91_*3182+93del
ENST00000649781.2:c.3285+91_3285+93del	ENSP00000497203.1:n.3285+91_3285+93del
ENST00000685018.2:c.3468+91_3468+93del	ENSP00000510194.2:n.3468+91_3468+93del
ENST00000687278.2:c.3468+91_3468+93del	ENSP00000509593.2:n.3468+91_3468+93del
ENST00000699585.1:c.3468+91_3468+93del	ENSP00000514456.1:n.3468+91_3468+93del
ENST00000699598.1:c.3468+91_3468+93del	ENSP00000514467.1:n.3468+91_3468+93del
ENST00000699599.1:c.3468+91_3468+93del	ENSP00000514468.1:n.3468+91_3468+93del
ENST00000699600.1:c.3468+91_3468+93del	ENSP00000514469.1:n.3468+91_3468+93del
ENST00000699601.1:c.*1843+91_*1843+93del	ENSP00000514470.1:n.*1843+91_*1843+93del
ENST00000699602.1:c.3462+91_3462+93del	ENSP00000514471.1:n.3462+91_3462+93del
ENST00000699604.1:c.*3292+91_*3292+93del	ENSP00000514472.1:n.*3292+91_*3292+93del
ENST00000699605.1:c.3042+91_3042+93del	ENSP00000514473.1:n.3042+91_3042+93del
ENST00000685018.1:c.216+91_216+93del	ENSP00000510194.1:n.216+91_216+93del
ENST00000687278.1:c.1059+91_1059+93del	ENSP00000509593.1:n.1059+91_1059+93del
ENST00000689011.1:c.50+91_50+93del
ENST00000003084.11:c.3468+91_3468+93del MANE Select	ENSP00000003084.6:n.3468+91_3468+93del
ENST00000647720.1:c.1118+91_1118+93del
ENST00000648260.1:c.2250+91_2250+93del	ENSP00000497957.1:n.2250+91_2250+93del
ENST00000649406.1:c.3285+91_3285+93del	ENSP00000497965.1:n.3285+91_3285+93del
ENST00000649781.1:c.3285+91_3285+93del	ENSP00000497203.1:n.3285+91_3285+93del
ENST00000003084.10:c.3468+91_3468+93del	ENSP00000003084.6:n.3468+91_3468+93del
ENST00000426809.5:c.3378+91_3378+93del	ENSP00000389119.1:n.3378+91_3378+93del
ENST00000468795.1:c.293+91_293+93del
NM_000492.3:c.3468+91_3468+93del , LRG_663t1:c.3468+91_3468+93del	NP_000483.3:n.3468+91_3468+93del
XM_011515751.1:c.3558+91_3558+93del	XP_011514053.1:n.3558+91_3558+93del
XM_011515752.1:c.3558+91_3558+93del	XP_011514054.1:n.3558+91_3558+93del
XM_011515753.1:c.3225+91_3225+93del	XP_011514055.1:n.3225+91_3225+93del
XM_011515754.1:c.3225+91_3225+93del	XP_011514056.1:n.3225+91_3225+93del
NM_000492.4:c.3468+91_3468+93del MANE Select	NP_000483.3:n.3468+91_3468+93del