Canonical Allele Identifier: CA2684649152

Gene: CFTR

Linked Data

• gnomAD v4: 7-117664665-TGAACTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664666_117664671del , CM000669.2:g.117664666_117664671del	GRCh38
NC_000007.13:g.117304720_117304725del , CM000669.1:g.117304720_117304725del	GRCh37
NC_000007.12:g.117091956_117091961del	NCBI36
NG_016465.4:g.203883_203888del , LRG_663:g.203883_203888del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*173-22_*173-17del	ENSP00000497673.2:n.*173-22_*173-17del
ENST00000647978.2:c.*3678-22_*3678-17del	ENSP00000497658.1:n.*3678-22_*3678-17del
ENST00000649781.2:c.3781-22_3781-17del	ENSP00000497203.1:n.3781-22_3781-17del
ENST00000685018.2:c.*177-22_*177-17del	ENSP00000510194.2:n.*177-22_*177-17del
ENST00000687278.2:c.*617-22_*617-17del	ENSP00000509593.2:n.*617-22_*617-17del
ENST00000699585.1:c.*173-22_*173-17del	ENSP00000514456.1:n.*173-22_*173-17del
ENST00000699598.1:c.3964-22_3964-17del	ENSP00000514467.1:n.3964-22_3964-17del
ENST00000699599.1:c.*177-22_*177-17del	ENSP00000514468.1:n.*177-22_*177-17del
ENST00000699600.1:c.*625-22_*625-17del	ENSP00000514469.1:n.*625-22_*625-17del
ENST00000699601.1:c.*2339-22_*2339-17del	ENSP00000514470.1:n.*2339-22_*2339-17del
ENST00000699602.1:c.3958-22_3958-17del	ENSP00000514471.1:n.3958-22_3958-17del
ENST00000699604.1:c.*3788-22_*3788-17del	ENSP00000514472.1:n.*3788-22_*3788-17del
ENST00000699605.1:c.3538-22_3538-17del	ENSP00000514473.1:n.3538-22_3538-17del
ENST00000699606.1:n.2132-22_2132-17del
ENST00000685018.1:c.828-22_828-17del	ENSP00000510194.1:n.828-22_828-17del
ENST00000687278.1:c.1751-22_1751-17del	ENSP00000509593.1:n.1751-22_1751-17del
ENST00000689011.1:c.546-22_546-17del
ENST00000003084.11:c.3964-22_3964-17del MANE Select	ENSP00000003084.6:n.3964-22_3964-17del
ENST00000647720.1:c.1414-22_1414-17del
ENST00000649781.1:c.3781-22_3781-17del	ENSP00000497203.1:n.3781-22_3781-17del
ENST00000003084.10:c.3964-22_3964-17del	ENSP00000003084.6:n.3964-22_3964-17del
ENST00000426809.5:c.3874-22_3874-17del	ENSP00000389119.1:n.3874-22_3874-17del
ENST00000600166.1:c.90-22_90-17del
NM_000492.3:c.3964-22_3964-17del , LRG_663t1:c.3964-22_3964-17del	NP_000483.3:n.3964-22_3964-17del
XM_011515751.1:c.4054-22_4054-17del	XP_011514053.1:n.4054-22_4054-17del
XM_011515752.1:c.4054-22_4054-17del	XP_011514054.1:n.4054-22_4054-17del
XM_011515753.1:c.3721-22_3721-17del	XP_011514055.1:n.3721-22_3721-17del
XM_011515754.1:c.3721-22_3721-17del	XP_011514056.1:n.3721-22_3721-17del
NM_000492.4:c.3964-22_3964-17del MANE Select	NP_000483.3:n.3964-22_3964-17del