Canonical Allele Identifier: CA2580076325

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1725741
• ClinVar RCV Id: RCV002309425

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627546_117627547delinsT , CM000669.2:g.117627546_117627547delinsT	GRCh38
NC_000007.13:g.117267600_117267601delinsT , CM000669.1:g.117267600_117267601delinsT	GRCh37
NC_000007.12:g.117054836_117054837delinsT	NCBI36
NG_016465.4:g.166763_166764delinsT , LRG_663:g.166763_166764delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3493_3494delinsT	ENSP00000497673.2:p.Lys1165CysfsTer?
ENST00000647978.2:c.*3207_*3208delinsT	ENSP00000497658.1:n.*3207_*3208delinsT
ENST00000649781.2:c.3310_3311delinsT	ENSP00000497203.1:p.Lys1104CysfsTer27
ENST00000685018.2:c.3493_3494delinsT	ENSP00000510194.2:p.Lys1165CysfsTer27
ENST00000687278.2:c.*146_*147delinsT	ENSP00000509593.2:n.*146_*147delinsT
ENST00000699585.1:c.3493_3494delinsT	ENSP00000514456.1:p.Lys1165CysfsTer?
ENST00000699598.1:c.3493_3494delinsT	ENSP00000514467.1:p.Lys1165CysfsTer27
ENST00000699599.1:c.3493_3494delinsT	ENSP00000514468.1:p.Lys1165CysfsTer27
ENST00000699600.1:c.*154_*155delinsT	ENSP00000514469.1:n.*154_*155delinsT
ENST00000699601.1:c.*1868_*1869delinsT	ENSP00000514470.1:n.*1868_*1869delinsT
ENST00000699602.1:c.3487_3488delinsT	ENSP00000514471.1:p.Lys1163CysfsTer27
ENST00000699604.1:c.*3317_*3318delinsT	ENSP00000514472.1:n.*3317_*3318delinsT
ENST00000699605.1:c.3067_3068delinsT	ENSP00000514473.1:p.Lys1023CysfsTer27
ENST00000685018.1:c.241_242delinsT	ENSP00000510194.1:p.Lys81CysfsTer27
ENST00000687278.1:c.1280_1281delinsT	ENSP00000509593.1:n.1280_1281delinsT
ENST00000689011.1:c.75_76delinsT
ENST00000003084.11:c.3493_3494delinsT MANE Select	ENSP00000003084.6:p.Lys1165CysfsTer27
ENST00000647720.1:c.1143_1144delinsT
ENST00000648260.1:c.2275_2276delinsT	ENSP00000497957.1:p.Lys759CysfsTer27
ENST00000649406.1:c.3310_3311delinsT	ENSP00000497965.1:p.Lys1104CysfsTer27
ENST00000649781.1:c.3310_3311delinsT	ENSP00000497203.1:p.Lys1104CysfsTer27
ENST00000003084.10:c.3493_3494delinsT	ENSP00000003084.6:p.Lys1165CysfsTer27
ENST00000426809.5:c.3403_3404delinsT	ENSP00000389119.1:p.Lys1135CysfsTer27
ENST00000468795.1:c.318_319delinsT
NM_000492.3:c.3493_3494delinsT , LRG_663t1:c.3493_3494delinsT	NP_000483.3:p.Lys1165CysfsTer27
XM_011515751.1:c.3583_3584delinsT	XP_011514053.1:p.Lys1195CysfsTer27
XM_011515752.1:c.3583_3584delinsT	XP_011514054.1:p.Lys1195CysfsTer27
XM_011515753.1:c.3250_3251delinsT	XP_011514055.1:p.Lys1084CysfsTer27
XM_011515754.1:c.3250_3251delinsT	XP_011514056.1:p.Lys1084CysfsTer27
NM_000492.4:c.3493_3494delinsT MANE Select	NP_000483.3:p.Lys1165CysfsTer27