Canonical Allele Identifier: CA2684617823

Gene: CFTR

Linked Data

• gnomAD v4: 7-117536576-AGACTTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117536579_117536585del , CM000669.2:g.117536579_117536585del	GRCh38
NC_000007.13:g.117176633_117176639del , CM000669.1:g.117176633_117176639del	GRCh37
NC_000007.12:g.116963869_116963875del	NCBI36
NG_016465.4:g.75796_75802del , LRG_663:g.75796_75802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.775_781del	ENSP00000497673.2:p.Val260ProfsTer4
ENST00000647978.2:c.*672_*678del	ENSP00000497658.1:n.*672_*678del
ENST00000649781.2:c.775_781del	ENSP00000497203.1:p.Val260ProfsTer4
ENST00000685018.2:c.775_781del	ENSP00000510194.2:p.Val260ProfsTer4
ENST00000687278.2:c.775_781del	ENSP00000509593.2:p.Val260ProfsTer4
ENST00000699585.1:c.775_781del	ENSP00000514456.1:p.Val260ProfsTer4
ENST00000699596.1:c.775_781del	ENSP00000514465.1:p.Val260ProfsTer4
ENST00000699597.1:c.775_781del	ENSP00000514466.1:p.Val260ProfsTer4
ENST00000699598.1:c.775_781del	ENSP00000514467.1:p.Val260ProfsTer4
ENST00000699599.1:c.775_781del	ENSP00000514468.1:p.Val260ProfsTer4
ENST00000699600.1:c.775_781del	ENSP00000514469.1:p.Val260ProfsTer4
ENST00000699601.1:c.775_781del	ENSP00000514470.1:p.Val260ProfsTer4
ENST00000699602.1:c.775_781del	ENSP00000514471.1:p.Val260ProfsTer4
ENST00000699604.1:c.*599_*605del	ENSP00000514472.1:n.*599_*605del
ENST00000699605.1:c.532_538del	ENSP00000514473.1:p.Val179ProfsTer4
ENST00000003084.11:c.775_781del MANE Select	ENSP00000003084.6:p.Val260ProfsTer4
ENST00000647978.1:c.*672_*678del	ENSP00000497658.1:n.*672_*678del
ENST00000648260.1:c.775_781del	ENSP00000497957.1:p.Val260ProfsTer4
ENST00000649406.1:c.775_781del	ENSP00000497965.1:p.Val260ProfsTer4
ENST00000649781.1:c.775_781del	ENSP00000497203.1:p.Val260ProfsTer4
ENST00000673785.1:c.532_538del	ENSP00000501235.1:p.Val179ProfsTer4
ENST00000003084.10:c.775_781del	ENSP00000003084.6:p.Val260ProfsTer4
ENST00000426809.5:c.685_691del	ENSP00000389119.1:p.Val230ProfsTer4
NM_000492.3:c.775_781del , LRG_663t1:c.775_781del	NP_000483.3:p.Val260ProfsTer4
XM_011515751.1:c.865_871del	XP_011514053.1:p.Val290ProfsTer4
XM_011515752.1:c.865_871del	XP_011514054.1:p.Val290ProfsTer4
XM_011515753.1:c.532_538del	XP_011514055.1:p.Val179ProfsTer4
XM_011515754.1:c.532_538del	XP_011514056.1:p.Val179ProfsTer4
NM_000492.4:c.775_781del MANE Select	NP_000483.3:p.Val260ProfsTer4