Canonical Allele Identifier: CA2579000359

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1706068
• ClinVar RCV Id: RCV002284598

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610530_117610544del , CM000669.2:g.117610530_117610544del	GRCh38
NC_000007.13:g.117250584_117250598del , CM000669.1:g.117250584_117250598del	GRCh37
NC_000007.12:g.117037820_117037834del	NCBI36
NG_016465.4:g.149747_149761del , LRG_663:g.149747_149761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3000_3014del	ENSP00000497673.2:p.Val1001_Ile1005del
ENST00000647978.2:c.*2714_*2728del	ENSP00000497658.1:n.*2714_*2728del
ENST00000649781.2:c.2817_2831del	ENSP00000497203.1:p.Val940_Ile944del
ENST00000685018.2:c.3000_3014del	ENSP00000510194.2:p.Val1001_Ile1005del
ENST00000687278.2:c.3000_3014del	ENSP00000509593.2:p.Val1001_Ile1005del
ENST00000699585.1:c.3000_3014del	ENSP00000514456.1:p.Val1001_Ile1005del
ENST00000699598.1:c.3000_3014del	ENSP00000514467.1:p.Val1001_Ile1005del
ENST00000699599.1:c.3000_3014del	ENSP00000514468.1:p.Val1001_Ile1005del
ENST00000699600.1:c.3000_3014del	ENSP00000514469.1:p.Val1001_Ile1005del
ENST00000699601.1:c.*1300_*1314del	ENSP00000514470.1:n.*1300_*1314del
ENST00000699602.1:c.3000_3014del	ENSP00000514471.1:p.Val1001_Ile1005del
ENST00000699604.1:c.*2824_*2838del	ENSP00000514472.1:n.*2824_*2838del
ENST00000699605.1:c.2574_2588del	ENSP00000514473.1:p.Val859_Ile863del
ENST00000687278.1:c.591_605del	ENSP00000509593.1:p.Val198_Ile202del
ENST00000003084.11:c.3000_3014del MANE Select	ENSP00000003084.6:p.Val1001_Ile1005del
ENST00000647720.1:c.650_664del
ENST00000648260.1:c.1782_1796del	ENSP00000497957.1:p.Val595_Ile599del
ENST00000649406.1:c.2817_2831del	ENSP00000497965.1:p.Val940_Ile944del
ENST00000649781.1:c.2817_2831del	ENSP00000497203.1:p.Val940_Ile944del
ENST00000003084.10:c.3000_3014del	ENSP00000003084.6:p.Val1001_Ile1005del
ENST00000426809.5:c.2910_2924del	ENSP00000389119.1:p.Val971_Ile975del
NM_000492.3:c.3000_3014del , LRG_663t1:c.3000_3014del	NP_000483.3:p.Val1001_Ile1005del
XM_011515751.1:c.3090_3104del	XP_011514053.1:p.Val1031_Ile1035del
XM_011515752.1:c.3090_3104del	XP_011514054.1:p.Val1031_Ile1035del
XM_011515753.1:c.2757_2771del	XP_011514055.1:p.Val920_Ile924del
XM_011515754.1:c.2757_2771del	XP_011514056.1:p.Val920_Ile924del
NM_000492.4:c.3000_3014del MANE Select	NP_000483.3:p.Val1001_Ile1005del