Canonical Allele Identifier: CA2684588205

Gene: CFTR

Linked Data

• gnomAD v4: 7-117610389-AAAAAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610395_117610400del , CM000669.2:g.117610395_117610400del	GRCh38
NC_000007.13:g.117250449_117250454del , CM000669.1:g.117250449_117250454del	GRCh37
NC_000007.12:g.117037685_117037690del	NCBI36
NG_016465.4:g.149612_149617del , LRG_663:g.149612_149617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2989-124_2989-119del	ENSP00000497673.2:n.2989-124_2989-119del
ENST00000647978.2:c.*2703-124_*2703-119del	ENSP00000497658.1:n.*2703-124_*2703-119del
ENST00000649781.2:c.2806-124_2806-119del	ENSP00000497203.1:n.2806-124_2806-119del
ENST00000685018.2:c.2989-124_2989-119del	ENSP00000510194.2:n.2989-124_2989-119del
ENST00000687278.2:c.2989-124_2989-119del	ENSP00000509593.2:n.2989-124_2989-119del
ENST00000699585.1:c.2989-124_2989-119del	ENSP00000514456.1:n.2989-124_2989-119del
ENST00000699598.1:c.2989-124_2989-119del	ENSP00000514467.1:n.2989-124_2989-119del
ENST00000699599.1:c.2989-124_2989-119del	ENSP00000514468.1:n.2989-124_2989-119del
ENST00000699600.1:c.2989-124_2989-119del	ENSP00000514469.1:n.2989-124_2989-119del
ENST00000699601.1:c.*1289-124_*1289-119del	ENSP00000514470.1:n.*1289-124_*1289-119del
ENST00000699602.1:c.2989-124_2989-119del	ENSP00000514471.1:n.2989-124_2989-119del
ENST00000699604.1:c.*2813-124_*2813-119del	ENSP00000514472.1:n.*2813-124_*2813-119del
ENST00000699605.1:c.2563-124_2563-119del	ENSP00000514473.1:n.2563-124_2563-119del
ENST00000687278.1:c.580-124_580-119del	ENSP00000509593.1:n.580-124_580-119del
ENST00000003084.11:c.2989-124_2989-119del MANE Select	ENSP00000003084.6:n.2989-124_2989-119del
ENST00000647720.1:c.639-124_639-119del
ENST00000648260.1:c.1771-124_1771-119del	ENSP00000497957.1:n.1771-124_1771-119del
ENST00000649406.1:c.2806-124_2806-119del	ENSP00000497965.1:n.2806-124_2806-119del
ENST00000649781.1:c.2806-124_2806-119del	ENSP00000497203.1:n.2806-124_2806-119del
ENST00000003084.10:c.2989-124_2989-119del	ENSP00000003084.6:n.2989-124_2989-119del
ENST00000426809.5:c.2899-124_2899-119del	ENSP00000389119.1:n.2899-124_2899-119del
NM_000492.3:c.2989-124_2989-119del , LRG_663t1:c.2989-124_2989-119del	NP_000483.3:n.2989-124_2989-119del
XM_011515751.1:c.3079-124_3079-119del	XP_011514053.1:n.3079-124_3079-119del
XM_011515752.1:c.3079-124_3079-119del	XP_011514054.1:n.3079-124_3079-119del
XM_011515753.1:c.2746-124_2746-119del	XP_011514055.1:n.2746-124_2746-119del
XM_011515754.1:c.2746-124_2746-119del	XP_011514056.1:n.2746-124_2746-119del
NM_000492.4:c.2989-124_2989-119del MANE Select	NP_000483.3:n.2989-124_2989-119del