Canonical Allele Identifier: CA2684619127

Gene: CFTR

Linked Data

• gnomAD v4: 7-117590462-TTATAATGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590464_117590471del , CM000669.2:g.117590464_117590471del	GRCh38
NC_000007.13:g.117230518_117230525del , CM000669.1:g.117230518_117230525del	GRCh37
NC_000007.12:g.117017754_117017761del	NCBI36
NG_016465.4:g.129681_129688del , LRG_663:g.129681_129688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1766+25_1766+32del	ENSP00000497673.2:n.1766+25_1766+32del
ENST00000647978.2:c.*1480+25_*1480+32del	ENSP00000497658.1:n.*1480+25_*1480+32del
ENST00000649781.2:c.1583+25_1583+32del	ENSP00000497203.1:n.1583+25_1583+32del
ENST00000685018.2:c.1766+25_1766+32del	ENSP00000510194.2:n.1766+25_1766+32del
ENST00000687278.2:c.1766+25_1766+32del	ENSP00000509593.2:n.1766+25_1766+32del
ENST00000699585.1:c.1766+25_1766+32del	ENSP00000514456.1:n.1766+25_1766+32del
ENST00000699598.1:c.1766+25_1766+32del	ENSP00000514467.1:n.1766+25_1766+32del
ENST00000699599.1:c.1766+25_1766+32del	ENSP00000514468.1:n.1766+25_1766+32del
ENST00000699600.1:c.1766+25_1766+32del	ENSP00000514469.1:n.1766+25_1766+32del
ENST00000699601.1:c.*66+25_*66+32del	ENSP00000514470.1:n.*66+25_*66+32del
ENST00000699602.1:c.1766+25_1766+32del	ENSP00000514471.1:n.1766+25_1766+32del
ENST00000699604.1:c.*1590+25_*1590+32del	ENSP00000514472.1:n.*1590+25_*1590+32del
ENST00000699605.1:c.1340+25_1340+32del	ENSP00000514473.1:n.1340+25_1340+32del
ENST00000003084.11:c.1766+25_1766+32del MANE Select	ENSP00000003084.6:n.1766+25_1766+32del
ENST00000647978.1:c.*1480+25_*1480+32del	ENSP00000497658.1:n.*1480+25_*1480+32del
ENST00000648260.1:c.1402-12362_1402-12355del	ENSP00000497957.1:n.1402-12362_1402-12355del
ENST00000649406.1:c.1583+25_1583+32del	ENSP00000497965.1:n.1583+25_1583+32del
ENST00000649781.1:c.1583+25_1583+32del	ENSP00000497203.1:n.1583+25_1583+32del
ENST00000003084.10:c.1766+25_1766+32del	ENSP00000003084.6:n.1766+25_1766+32del
ENST00000426809.5:c.1676+25_1676+32del	ENSP00000389119.1:n.1676+25_1676+32del
NM_000492.3:c.1766+25_1766+32del , LRG_663t1:c.1766+25_1766+32del	NP_000483.3:n.1766+25_1766+32del
XM_011515751.1:c.1856+25_1856+32del	XP_011514053.1:n.1856+25_1856+32del
XM_011515752.1:c.1856+25_1856+32del	XP_011514054.1:n.1856+25_1856+32del
XM_011515753.1:c.1523+25_1523+32del	XP_011514055.1:n.1523+25_1523+32del
XM_011515754.1:c.1523+25_1523+32del	XP_011514056.1:n.1523+25_1523+32del
NM_000492.4:c.1766+25_1766+32del MANE Select	NP_000483.3:n.1766+25_1766+32del