Canonical Allele Identifier: CA2695206317

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2884009
• ClinVar RCV Id: RCV003617753

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117509133_117509137del , CM000669.2:g.117509133_117509137del	GRCh38
NC_000007.13:g.117149187_117149191del , CM000669.1:g.117149187_117149191del	GRCh37
NC_000007.12:g.116936423_116936427del	NCBI36
NG_016465.4:g.48350_48354del , LRG_663:g.48350_48354del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.264_268del	ENSP00000497673.2:p.Leu88PhefsTer21
ENST00000647978.2:c.*161_*165del	ENSP00000497658.1:n.*161_*165del
ENST00000649781.2:c.264_268del	ENSP00000497203.1:p.Leu88PhefsTer21
ENST00000649850.2:c.*161_*165del	ENSP00000514457.1:n.*161_*165del
ENST00000685018.2:c.264_268del	ENSP00000510194.2:p.Leu88PhefsTer21
ENST00000687278.2:c.264_268del	ENSP00000509593.2:p.Leu88PhefsTer21
ENST00000699585.1:c.264_268del	ENSP00000514456.1:p.Leu88PhefsTer21
ENST00000699596.1:c.264_268del	ENSP00000514465.1:p.Leu88PhefsTer21
ENST00000699597.1:c.264_268del	ENSP00000514466.1:p.Leu88PhefsTer21
ENST00000699598.1:c.264_268del	ENSP00000514467.1:p.Leu88PhefsTer21
ENST00000699599.1:c.264_268del	ENSP00000514468.1:p.Leu88PhefsTer21
ENST00000699600.1:c.264_268del	ENSP00000514469.1:p.Leu88PhefsTer21
ENST00000699601.1:c.264_268del	ENSP00000514470.1:p.Leu88PhefsTer21
ENST00000699602.1:c.264_268del	ENSP00000514471.1:p.Leu88PhefsTer21
ENST00000699604.1:c.*88_*92del	ENSP00000514472.1:n.*88_*92del
ENST00000699605.1:c.21_25del	ENSP00000514473.1:p.Leu7PhefsTer21
ENST00000446805.2:c.21_25del	ENSP00000417012.1:p.Leu7PhefsTer21
ENST00000003084.11:c.264_268del MANE Select	ENSP00000003084.6:p.Leu88PhefsTer21
ENST00000647639.1:n.348_352del
ENST00000647978.1:c.*161_*165del	ENSP00000497658.1:n.*161_*165del
ENST00000648260.1:c.264_268del	ENSP00000497957.1:p.Leu88PhefsTer21
ENST00000649406.1:c.264_268del	ENSP00000497965.1:p.Leu88PhefsTer21
ENST00000649781.1:c.264_268del	ENSP00000497203.1:p.Leu88PhefsTer21
ENST00000649850.1:n.421_425del
ENST00000673785.1:c.21_25del	ENSP00000501235.1:p.Leu7PhefsTer21
ENST00000003084.10:c.264_268del	ENSP00000003084.6:p.Leu88PhefsTer21
ENST00000426809.5:c.264_268del	ENSP00000389119.1:p.Leu88PhefsTer21
ENST00000446805.1:c.21_25del	ENSP00000417012.1:p.Leu7PhefsTer21
NM_000492.3:c.264_268del , LRG_663t1:c.264_268del	NP_000483.3:p.Leu88PhefsTer21
XM_011515751.1:c.354_358del	XP_011514053.1:p.Leu118PhefsTer21
XM_011515752.1:c.354_358del	XP_011514054.1:p.Leu118PhefsTer21
XM_011515753.1:c.21_25del	XP_011514055.1:p.Leu7PhefsTer21
XM_011515754.1:c.21_25del	XP_011514056.1:p.Leu7PhefsTer21
NM_000492.4:c.264_268del MANE Select	NP_000483.3:p.Leu88PhefsTer21