Canonical Allele Identifier: CA2684619286

Gene: CFTR

Linked Data

• gnomAD v4: 7-117591835-GATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591838_117591840del , CM000669.2:g.117591838_117591840del	GRCh38
NC_000007.13:g.117231892_117231894del , CM000669.1:g.117231892_117231894del	GRCh37
NC_000007.12:g.117019128_117019130del	NCBI36
NG_016465.4:g.131055_131057del , LRG_663:g.131055_131057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1767-96_1767-94del	ENSP00000497673.2:n.1767-96_1767-94del
ENST00000647978.2:c.*1481-96_*1481-94del	ENSP00000497658.1:n.*1481-96_*1481-94del
ENST00000649781.2:c.1584-96_1584-94del	ENSP00000497203.1:n.1584-96_1584-94del
ENST00000685018.2:c.1767-96_1767-94del	ENSP00000510194.2:n.1767-96_1767-94del
ENST00000687278.2:c.1767-96_1767-94del	ENSP00000509593.2:n.1767-96_1767-94del
ENST00000699585.1:c.1767-96_1767-94del	ENSP00000514456.1:n.1767-96_1767-94del
ENST00000699598.1:c.1767-96_1767-94del	ENSP00000514467.1:n.1767-96_1767-94del
ENST00000699599.1:c.1767-96_1767-94del	ENSP00000514468.1:n.1767-96_1767-94del
ENST00000699600.1:c.1767-96_1767-94del	ENSP00000514469.1:n.1767-96_1767-94del
ENST00000699601.1:c.*67-96_*67-94del	ENSP00000514470.1:n.*67-96_*67-94del
ENST00000699602.1:c.1767-96_1767-94del	ENSP00000514471.1:n.1767-96_1767-94del
ENST00000699604.1:c.*1591-96_*1591-94del	ENSP00000514472.1:n.*1591-96_*1591-94del
ENST00000699605.1:c.1341-96_1341-94del	ENSP00000514473.1:n.1341-96_1341-94del
ENST00000003084.11:c.1767-96_1767-94del MANE Select	ENSP00000003084.6:n.1767-96_1767-94del
ENST00000647978.1:c.*1481-96_*1481-94del	ENSP00000497658.1:n.*1481-96_*1481-94del
ENST00000648260.1:c.1402-10988_1402-10986del	ENSP00000497957.1:n.1402-10988_1402-10986del
ENST00000649406.1:c.1584-96_1584-94del	ENSP00000497965.1:n.1584-96_1584-94del
ENST00000649781.1:c.1584-96_1584-94del	ENSP00000497203.1:n.1584-96_1584-94del
ENST00000003084.10:c.1767-96_1767-94del	ENSP00000003084.6:n.1767-96_1767-94del
ENST00000426809.5:c.1677-96_1677-94del	ENSP00000389119.1:n.1677-96_1677-94del
NM_000492.3:c.1767-96_1767-94del , LRG_663t1:c.1767-96_1767-94del	NP_000483.3:n.1767-96_1767-94del
XM_011515751.1:c.1857-96_1857-94del	XP_011514053.1:n.1857-96_1857-94del
XM_011515752.1:c.1857-96_1857-94del	XP_011514054.1:n.1857-96_1857-94del
XM_011515753.1:c.1524-96_1524-94del	XP_011514055.1:n.1524-96_1524-94del
XM_011515754.1:c.1524-96_1524-94del	XP_011514056.1:n.1524-96_1524-94del
NM_000492.4:c.1767-96_1767-94del MANE Select	NP_000483.3:n.1767-96_1767-94del