Canonical Allele Identifier: CA2603588251

Gene: CFTR

Linked Data

• gnomAD v3: 7-117480352-TAG-T
• gnomAD v4: 7-117480352-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480357_117480358del , CM000669.2:g.117480357_117480358del	GRCh38
NC_000007.13:g.117120411_117120412del , CM000669.1:g.117120411_117120412del	GRCh37
NC_000007.12:g.116907647_116907648del	NCBI36
NG_016465.4:g.19574_19575del , LRG_663:g.19574_19575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.53+210_53+211del	ENSP00000497673.2:n.53+210_53+211del
ENST00000647978.2:c.53+210_53+211del	ENSP00000497658.1:n.53+210_53+211del
ENST00000649781.2:c.53+210_53+211del	ENSP00000497203.1:n.53+210_53+211del
ENST00000649850.2:c.53+210_53+211del	ENSP00000514457.1:n.53+210_53+211del
ENST00000685018.2:c.53+210_53+211del	ENSP00000510194.2:n.53+210_53+211del
ENST00000687278.2:c.53+210_53+211del	ENSP00000509593.2:n.53+210_53+211del
ENST00000692802.2:n.197_198del
ENST00000693465.2:n.138+210_138+211del
ENST00000693480.2:n.137+210_137+211del
ENST00000699585.1:c.53+210_53+211del	ENSP00000514456.1:n.53+210_53+211del
ENST00000699596.1:c.53+210_53+211del	ENSP00000514465.1:n.53+210_53+211del
ENST00000699597.1:c.53+210_53+211del	ENSP00000514466.1:n.53+210_53+211del
ENST00000699598.1:c.53+210_53+211del	ENSP00000514467.1:n.53+210_53+211del
ENST00000699599.1:c.53+210_53+211del	ENSP00000514468.1:n.53+210_53+211del
ENST00000699600.1:c.53+210_53+211del	ENSP00000514469.1:n.53+210_53+211del
ENST00000699601.1:c.53+210_53+211del	ENSP00000514470.1:n.53+210_53+211del
ENST00000699602.1:c.53+210_53+211del	ENSP00000514471.1:n.53+210_53+211del
ENST00000699603.1:n.347_348del
ENST00000699604.1:c.53+210_53+211del	ENSP00000514472.1:n.53+210_53+211del
ENST00000699605.1:c.-300+210_-300+211del	ENSP00000514473.1:n.-300+210_-300+211del
ENST00000446805.2:c.-191+663_-191+664del	ENSP00000417012.1:n.-191+663_-191+664del
ENST00000692802.1:n.183_184del
ENST00000693465.1:n.123+210_123+211del
ENST00000693480.1:n.123+210_123+211del
ENST00000003084.11:c.53+210_53+211del MANE Select	ENSP00000003084.6:n.53+210_53+211del
ENST00000647639.1:n.137+210_137+211del
ENST00000647978.1:c.53+210_53+211del	ENSP00000497658.1:n.53+210_53+211del
ENST00000648260.1:c.53+210_53+211del	ENSP00000497957.1:n.53+210_53+211del
ENST00000649406.1:c.53+210_53+211del	ENSP00000497965.1:n.53+210_53+211del
ENST00000649781.1:c.53+210_53+211del	ENSP00000497203.1:n.53+210_53+211del
ENST00000649850.1:n.136+210_136+211del
ENST00000673785.1:c.-406+14526_-406+14527del	ENSP00000501235.1:n.-406+14526_-406+14527del
ENST00000003084.10:c.53+210_53+211del	ENSP00000003084.6:n.53+210_53+211del
ENST00000426809.5:c.53+210_53+211del	ENSP00000389119.1:n.53+210_53+211del
ENST00000446805.1:c.-191+663_-191+664del	ENSP00000417012.1:n.-191+663_-191+664del
ENST00000546407.1:n.166+4549_166+4550del
NM_000492.3:c.53+210_53+211del , LRG_663t1:c.53+210_53+211del	NP_000483.3:n.53+210_53+211del
XM_011515751.1:c.143+1012_143+1013del	XP_011514053.1:n.143+1012_143+1013del
XM_011515752.1:c.143+1012_143+1013del	XP_011514054.1:n.143+1012_143+1013del
XM_011515753.1:c.-191+663_-191+664del	XP_011514055.1:n.-191+663_-191+664del
XM_011515754.1:c.-309_-308del	XP_011514056.1:n.-309_-308del
NM_000492.4:c.53+210_53+211del MANE Select	NP_000483.3:n.53+210_53+211del