Canonical Allele Identifier: CA2684619072

Gene: CFTR

Linked Data

• gnomAD v4: 7-117590271-TGAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590272_117590275del , CM000669.2:g.117590272_117590275del	GRCh38
NC_000007.13:g.117230326_117230329del , CM000669.1:g.117230326_117230329del	GRCh37
NC_000007.12:g.117017562_117017565del	NCBI36
NG_016465.4:g.129489_129492del , LRG_663:g.129489_129492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1680-81_1680-78del	ENSP00000497673.2:n.1680-81_1680-78del
ENST00000647978.2:c.*1394-81_*1394-78del	ENSP00000497658.1:n.*1394-81_*1394-78del
ENST00000649781.2:c.1497-81_1497-78del	ENSP00000497203.1:n.1497-81_1497-78del
ENST00000685018.2:c.1680-81_1680-78del	ENSP00000510194.2:n.1680-81_1680-78del
ENST00000687278.2:c.1680-81_1680-78del	ENSP00000509593.2:n.1680-81_1680-78del
ENST00000699585.1:c.1680-81_1680-78del	ENSP00000514456.1:n.1680-81_1680-78del
ENST00000699598.1:c.1680-81_1680-78del	ENSP00000514467.1:n.1680-81_1680-78del
ENST00000699599.1:c.1680-81_1680-78del	ENSP00000514468.1:n.1680-81_1680-78del
ENST00000699600.1:c.1680-81_1680-78del	ENSP00000514469.1:n.1680-81_1680-78del
ENST00000699601.1:c.1680-86_1680-83del	ENSP00000514470.1:n.1680-86_1680-83del
ENST00000699602.1:c.1680-81_1680-78del	ENSP00000514471.1:n.1680-81_1680-78del
ENST00000699604.1:c.*1504-81_*1504-78del	ENSP00000514472.1:n.*1504-81_*1504-78del
ENST00000699605.1:c.1254-81_1254-78del	ENSP00000514473.1:n.1254-81_1254-78del
ENST00000003084.11:c.1680-81_1680-78del MANE Select	ENSP00000003084.6:n.1680-81_1680-78del
ENST00000647978.1:c.*1394-81_*1394-78del	ENSP00000497658.1:n.*1394-81_*1394-78del
ENST00000648260.1:c.1402-12554_1402-12551del	ENSP00000497957.1:n.1402-12554_1402-12551del
ENST00000649406.1:c.1497-81_1497-78del	ENSP00000497965.1:n.1497-81_1497-78del
ENST00000649781.1:c.1497-81_1497-78del	ENSP00000497203.1:n.1497-81_1497-78del
ENST00000003084.10:c.1680-81_1680-78del	ENSP00000003084.6:n.1680-81_1680-78del
ENST00000426809.5:c.1590-81_1590-78del	ENSP00000389119.1:n.1590-81_1590-78del
NM_000492.3:c.1680-81_1680-78del , LRG_663t1:c.1680-81_1680-78del	NP_000483.3:n.1680-81_1680-78del
XM_011515751.1:c.1770-81_1770-78del	XP_011514053.1:n.1770-81_1770-78del
XM_011515752.1:c.1770-81_1770-78del	XP_011514054.1:n.1770-81_1770-78del
XM_011515753.1:c.1437-81_1437-78del	XP_011514055.1:n.1437-81_1437-78del
XM_011515754.1:c.1437-81_1437-78del	XP_011514056.1:n.1437-81_1437-78del
NM_000492.4:c.1680-81_1680-78del MANE Select	NP_000483.3:n.1680-81_1680-78del