Canonical Allele Identifier: CA2684649135

Gene: CFTR

Linked Data

• gnomAD v4: 7-117664620-TTTTTAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664621_117664627del , CM000669.2:g.117664621_117664627del	GRCh38
NC_000007.13:g.117304675_117304681del , CM000669.1:g.117304675_117304681del	GRCh37
NC_000007.12:g.117091911_117091917del	NCBI36
NG_016465.4:g.203838_203844del , LRG_663:g.203838_203844del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*173-67_*173-61del	ENSP00000497673.2:n.*173-67_*173-61del
ENST00000647978.2:c.*3678-67_*3678-61del	ENSP00000497658.1:n.*3678-67_*3678-61del
ENST00000649781.2:c.3781-67_3781-61del	ENSP00000497203.1:n.3781-67_3781-61del
ENST00000685018.2:c.*177-67_*177-61del	ENSP00000510194.2:n.*177-67_*177-61del
ENST00000687278.2:c.*617-67_*617-61del	ENSP00000509593.2:n.*617-67_*617-61del
ENST00000699585.1:c.*173-67_*173-61del	ENSP00000514456.1:n.*173-67_*173-61del
ENST00000699598.1:c.3964-67_3964-61del	ENSP00000514467.1:n.3964-67_3964-61del
ENST00000699599.1:c.*177-67_*177-61del	ENSP00000514468.1:n.*177-67_*177-61del
ENST00000699600.1:c.*625-67_*625-61del	ENSP00000514469.1:n.*625-67_*625-61del
ENST00000699601.1:c.*2339-67_*2339-61del	ENSP00000514470.1:n.*2339-67_*2339-61del
ENST00000699602.1:c.3958-67_3958-61del	ENSP00000514471.1:n.3958-67_3958-61del
ENST00000699604.1:c.*3788-67_*3788-61del	ENSP00000514472.1:n.*3788-67_*3788-61del
ENST00000699605.1:c.3538-67_3538-61del	ENSP00000514473.1:n.3538-67_3538-61del
ENST00000699606.1:n.2132-67_2132-61del
ENST00000685018.1:c.828-67_828-61del	ENSP00000510194.1:n.828-67_828-61del
ENST00000687278.1:c.1751-67_1751-61del	ENSP00000509593.1:n.1751-67_1751-61del
ENST00000689011.1:c.546-67_546-61del
ENST00000003084.11:c.3964-67_3964-61del MANE Select	ENSP00000003084.6:n.3964-67_3964-61del
ENST00000647720.1:c.1414-67_1414-61del
ENST00000649781.1:c.3781-67_3781-61del	ENSP00000497203.1:n.3781-67_3781-61del
ENST00000003084.10:c.3964-67_3964-61del	ENSP00000003084.6:n.3964-67_3964-61del
ENST00000426809.5:c.3874-67_3874-61del	ENSP00000389119.1:n.3874-67_3874-61del
ENST00000600166.1:c.90-67_90-61del
NM_000492.3:c.3964-67_3964-61del , LRG_663t1:c.3964-67_3964-61del	NP_000483.3:n.3964-67_3964-61del
XM_011515751.1:c.4054-67_4054-61del	XP_011514053.1:n.4054-67_4054-61del
XM_011515752.1:c.4054-67_4054-61del	XP_011514054.1:n.4054-67_4054-61del
XM_011515753.1:c.3721-67_3721-61del	XP_011514055.1:n.3721-67_3721-61del
XM_011515754.1:c.3721-67_3721-61del	XP_011514056.1:n.3721-67_3721-61del
NM_000492.4:c.3964-67_3964-61del MANE Select	NP_000483.3:n.3964-67_3964-61del