Canonical Allele Identifier: CA577224081

Gene: CFTR

Linked Data

• dbSNP Id: rs1247517259
• gnomAD v2: 7-117282705-TTG-T
• gnomAD v3: 7-117642651-TTG-T
• gnomAD v4: 7-117642651-TTG-T
• MyVariant Identifiers: chr7:g.117282706_117282707del (hg19) ; chr7:g.117642652_117642653del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642652_117642653del , CM000669.2:g.117642652_117642653del	GRCh38
NC_000007.13:g.117282706_117282707del , CM000669.1:g.117282706_117282707del	GRCh37
NC_000007.12:g.117069942_117069943del	NCBI36
NG_016465.4:g.181869_181870del , LRG_663:g.181869_181870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*82+59_*82+60del	ENSP00000497673.2:n.*82+59_*82+60del
ENST00000647978.2:c.*3587+59_*3587+60del	ENSP00000497658.1:n.*3587+59_*3587+60del
ENST00000649781.2:c.3690+59_3690+60del	ENSP00000497203.1:n.3690+59_3690+60del
ENST00000685018.2:c.3873+59_3873+60del	ENSP00000510194.2:n.3873+59_3873+60del
ENST00000687278.2:c.*526+59_*526+60del	ENSP00000509593.2:n.*526+59_*526+60del
ENST00000699585.1:c.*82+59_*82+60del	ENSP00000514456.1:n.*82+59_*82+60del
ENST00000699598.1:c.3873+59_3873+60del	ENSP00000514467.1:n.3873+59_3873+60del
ENST00000699599.1:c.3873+59_3873+60del	ENSP00000514468.1:n.3873+59_3873+60del
ENST00000699600.1:c.*534+59_*534+60del	ENSP00000514469.1:n.*534+59_*534+60del
ENST00000699601.1:c.*2248+59_*2248+60del	ENSP00000514470.1:n.*2248+59_*2248+60del
ENST00000699602.1:c.3867+59_3867+60del	ENSP00000514471.1:n.3867+59_3867+60del
ENST00000699604.1:c.*3697+59_*3697+60del	ENSP00000514472.1:n.*3697+59_*3697+60del
ENST00000699605.1:c.3447+59_3447+60del	ENSP00000514473.1:n.3447+59_3447+60del
ENST00000685018.1:c.621+59_621+60del	ENSP00000510194.1:n.621+59_621+60del
ENST00000687278.1:c.1660+59_1660+60del	ENSP00000509593.1:n.1660+59_1660+60del
ENST00000689011.1:c.455+59_455+60del
ENST00000003084.11:c.3873+59_3873+60del MANE Select	ENSP00000003084.6:n.3873+59_3873+60del
ENST00000647720.1:c.1323+59_1323+60del
ENST00000649781.1:c.3690+59_3690+60del	ENSP00000497203.1:n.3690+59_3690+60del
ENST00000003084.10:c.3873+59_3873+60del	ENSP00000003084.6:n.3873+59_3873+60del
ENST00000426809.5:c.3783+59_3783+60del	ENSP00000389119.1:n.3783+59_3783+60del
NM_000492.3:c.3873+59_3873+60del , LRG_663t1:c.3873+59_3873+60del	NP_000483.3:n.3873+59_3873+60del
XM_011515751.1:c.3963+59_3963+60del	XP_011514053.1:n.3963+59_3963+60del
XM_011515752.1:c.3963+59_3963+60del	XP_011514054.1:n.3963+59_3963+60del
XM_011515753.1:c.3630+59_3630+60del	XP_011514055.1:n.3630+59_3630+60del
XM_011515754.1:c.3630+59_3630+60del	XP_011514056.1:n.3630+59_3630+60del
NM_000492.4:c.3873+59_3873+60del MANE Select	NP_000483.3:n.3873+59_3873+60del