Canonical Allele Identifier: CA2684619326

Gene: CFTR

Linked Data

• gnomAD v4: 7-117591889-AAAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591891_117591894del , CM000669.2:g.117591891_117591894del	GRCh38
NC_000007.13:g.117231945_117231948del , CM000669.1:g.117231945_117231948del	GRCh37
NC_000007.12:g.117019181_117019184del	NCBI36
NG_016465.4:g.131108_131111del , LRG_663:g.131108_131111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1767-43_1767-40del	ENSP00000497673.2:n.1767-43_1767-40del
ENST00000647978.2:c.*1481-43_*1481-40del	ENSP00000497658.1:n.*1481-43_*1481-40del
ENST00000649781.2:c.1584-43_1584-40del	ENSP00000497203.1:n.1584-43_1584-40del
ENST00000685018.2:c.1767-43_1767-40del	ENSP00000510194.2:n.1767-43_1767-40del
ENST00000687278.2:c.1767-43_1767-40del	ENSP00000509593.2:n.1767-43_1767-40del
ENST00000699585.1:c.1767-43_1767-40del	ENSP00000514456.1:n.1767-43_1767-40del
ENST00000699598.1:c.1767-43_1767-40del	ENSP00000514467.1:n.1767-43_1767-40del
ENST00000699599.1:c.1767-43_1767-40del	ENSP00000514468.1:n.1767-43_1767-40del
ENST00000699600.1:c.1767-43_1767-40del	ENSP00000514469.1:n.1767-43_1767-40del
ENST00000699601.1:c.*67-43_*67-40del	ENSP00000514470.1:n.*67-43_*67-40del
ENST00000699602.1:c.1767-43_1767-40del	ENSP00000514471.1:n.1767-43_1767-40del
ENST00000699604.1:c.*1591-43_*1591-40del	ENSP00000514472.1:n.*1591-43_*1591-40del
ENST00000699605.1:c.1341-43_1341-40del	ENSP00000514473.1:n.1341-43_1341-40del
ENST00000003084.11:c.1767-43_1767-40del MANE Select	ENSP00000003084.6:n.1767-43_1767-40del
ENST00000647978.1:c.*1481-43_*1481-40del	ENSP00000497658.1:n.*1481-43_*1481-40del
ENST00000648260.1:c.1402-10935_1402-10932del	ENSP00000497957.1:n.1402-10935_1402-10932del
ENST00000649406.1:c.1584-43_1584-40del	ENSP00000497965.1:n.1584-43_1584-40del
ENST00000649781.1:c.1584-43_1584-40del	ENSP00000497203.1:n.1584-43_1584-40del
ENST00000003084.10:c.1767-43_1767-40del	ENSP00000003084.6:n.1767-43_1767-40del
ENST00000426809.5:c.1677-43_1677-40del	ENSP00000389119.1:n.1677-43_1677-40del
NM_000492.3:c.1767-43_1767-40del , LRG_663t1:c.1767-43_1767-40del	NP_000483.3:n.1767-43_1767-40del
XM_011515751.1:c.1857-43_1857-40del	XP_011514053.1:n.1857-43_1857-40del
XM_011515752.1:c.1857-43_1857-40del	XP_011514054.1:n.1857-43_1857-40del
XM_011515753.1:c.1524-43_1524-40del	XP_011514055.1:n.1524-43_1524-40del
XM_011515754.1:c.1524-43_1524-40del	XP_011514056.1:n.1524-43_1524-40del
NM_000492.4:c.1767-43_1767-40del MANE Select	NP_000483.3:n.1767-43_1767-40del