Canonical Allele Identifier: CA645509184

Gene: CFTR

Linked Data

• ClinVar Variation Id: 439069
• ClinVar RCV Id: RCV000505973 ; RCV001009453 ; RCV001004487
• dbSNP Id: rs1554391033

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603679_117603684delinsTCAGA , CM000669.2:g.117603679_117603684delinsTCAGA	GRCh38
NC_000007.13:g.117243733_117243738delinsTCAGA , CM000669.1:g.117243733_117243738delinsTCAGA	GRCh37
NC_000007.12:g.117030969_117030974delinsTCAGA	NCBI36
NG_016465.4:g.142896_142901delinsTCAGA , LRG_663:g.142896_142901delinsTCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2805_2810delinsTCAGA	ENSP00000497673.2:p.Pro936GlnfsTer6
ENST00000647978.2:c.*2519_*2524delinsTCAGA	ENSP00000497658.1:n.*2519_*2524delinsTCAGA
ENST00000649781.2:c.2622_2627delinsTCAGA	ENSP00000497203.1:p.Pro875GlnfsTer6
ENST00000685018.2:c.2805_2810delinsTCAGA	ENSP00000510194.2:p.Pro936GlnfsTer6
ENST00000687278.2:c.2805_2810delinsTCAGA	ENSP00000509593.2:p.Pro936GlnfsTer6
ENST00000699585.1:c.2805_2810delinsTCAGA	ENSP00000514456.1:p.Pro936GlnfsTer6
ENST00000699598.1:c.2805_2810delinsTCAGA	ENSP00000514467.1:p.Pro936GlnfsTer6
ENST00000699599.1:c.2805_2810delinsTCAGA	ENSP00000514468.1:p.Pro936GlnfsTer6
ENST00000699600.1:c.2805_2810delinsTCAGA	ENSP00000514469.1:p.Pro936GlnfsTer6
ENST00000699601.1:c.*1105_*1110delinsTCAGA	ENSP00000514470.1:n.*1105_*1110delinsTCAGA
ENST00000699602.1:c.2805_2810delinsTCAGA	ENSP00000514471.1:p.Pro936GlnfsTer6
ENST00000699604.1:c.*2629_*2634delinsTCAGA	ENSP00000514472.1:n.*2629_*2634delinsTCAGA
ENST00000699605.1:c.2379_2384delinsTCAGA	ENSP00000514473.1:p.Pro794GlnfsTer6
ENST00000687278.1:c.396_401delinsTCAGA	ENSP00000509593.1:p.Pro133GlnfsTer6
ENST00000003084.11:c.2805_2810delinsTCAGA MANE Select	ENSP00000003084.6:p.Pro936GlnfsTer6
ENST00000647720.1:c.455_460delinsTCAGA
ENST00000648260.1:c.1587_1592delinsTCAGA	ENSP00000497957.1:p.Pro530GlnfsTer6
ENST00000649406.1:c.2622_2627delinsTCAGA	ENSP00000497965.1:p.Pro875GlnfsTer6
ENST00000649781.1:c.2622_2627delinsTCAGA	ENSP00000497203.1:p.Pro875GlnfsTer6
ENST00000003084.10:c.2805_2810delinsTCAGA	ENSP00000003084.6:p.Pro936GlnfsTer6
ENST00000426809.5:c.2715_2720delinsTCAGA	ENSP00000389119.1:p.Pro906GlnfsTer6
NM_000492.3:c.2805_2810delinsTCAGA , LRG_663t1:c.2805_2810delinsTCAGA	NP_000483.3:p.Pro936GlnfsTer6
XM_011515751.1:c.2895_2900delinsTCAGA	XP_011514053.1:p.Pro966GlnfsTer6
XM_011515752.1:c.2895_2900delinsTCAGA	XP_011514054.1:p.Pro966GlnfsTer6
XM_011515753.1:c.2562_2567delinsTCAGA	XP_011514055.1:p.Pro855GlnfsTer6
XM_011515754.1:c.2562_2567delinsTCAGA	XP_011514056.1:p.Pro855GlnfsTer6
NM_000492.4:c.2805_2810delinsTCAGA MANE Select	NP_000483.3:p.Pro936GlnfsTer6