Canonical Allele Identifier: CA2684620079
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627595_117627596insGTACATTTTATTATAATATACCGGTT , CM000669.2:g.117627595_117627596insGTACATTTTATTATAATATACCGGTT GRCh38
NC_000007.13:g.117267649_117267650insGTACATTTTATTATAATATACCGGTT , CM000669.1:g.117267649_117267650insGTACATTTTATTATAATATACCGGTT GRCh37
NC_000007.12:g.117054885_117054886insGTACATTTTATTATAATATACCGGTT NCBI36
NG_016465.4:g.166812_166813insGTACATTTTATTATAATATACCGGTT , LRG_663:g.166812_166813insGTACATTTTATTATAATATACCGGTT

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3517+25_3517+26insGTACATTTTATTATAATATACCGGTT ENSP00000497673.2:n.3517+25_3517+26insGTA...
ENST00000647978.2:c.*3256_*3257insGTACATTTTATTATAATATACCGGTT ENSP00000497658.1:n.*3256_*3257insGTACATT...
ENST00000649781.2:c.3359_3360insGTACATTTTATTATAATATACCGGTT ENSP00000497203.1:p.Lys1122IlefsTer4
ENST00000685018.2:c.3542_3543insGTACATTTTATTATAATATACCGGTT ENSP00000510194.2:p.Lys1183IlefsTer4
ENST00000687278.2:c.*195_*196insGTACATTTTATTATAATATACCGGTT ENSP00000509593.2:n.*195_*196insGTACATTTT...
ENST00000699585.1:c.3517+25_3517+26insGTACATTTTATTATAATATACCGGTT ENSP00000514456.1:n.3517+25_3517+26insGTA...
ENST00000699598.1:c.3542_3543insGTACATTTTATTATAATATACCGGTT ENSP00000514467.1:p.Lys1183IlefsTer4
ENST00000699599.1:c.3542_3543insGTACATTTTATTATAATATACCGGTT ENSP00000514468.1:p.Lys1183IlefsTer4
ENST00000699600.1:c.*203_*204insGTACATTTTATTATAATATACCGGTT ENSP00000514469.1:n.*203_*204insGTACATTTT...
ENST00000699601.1:c.*1917_*1918insGTACATTTTATTATAATATACCGGTT ENSP00000514470.1:n.*1917_*1918insGTACATT...
ENST00000699602.1:c.3536_3537insGTACATTTTATTATAATATACCGGTT ENSP00000514471.1:p.Lys1181IlefsTer4
ENST00000699604.1:c.*3366_*3367insGTACATTTTATTATAATATACCGGTT ENSP00000514472.1:n.*3366_*3367insGTACATT...
ENST00000699605.1:c.3116_3117insGTACATTTTATTATAATATACCGGTT ENSP00000514473.1:p.Lys1041IlefsTer4
ENST00000685018.1:c.290_291insGTACATTTTATTATAATATACCGGTT ENSP00000510194.1:p.Lys99IlefsTer4
ENST00000687278.1:c.1329_1330insGTACATTTTATTATAATATACCGGTT ENSP00000509593.1:n.1329_1330insGTACATTTT...
ENST00000689011.1:c.124_125insGTACATTTTATTATAATATACCGGTT
ENST00000003084.11:c.3542_3543insGTACATTTTATTATAATATACCGGTT MANE Select ENSP00000003084.6:p.Lys1183IlefsTer4
ENST00000647720.1:c.1167+25_1167+26insGTACATTTTATTATAATATACCGGTT
ENST00000648260.1:c.2324_2325insGTACATTTTATTATAATATACCGGTT ENSP00000497957.1:p.Lys777IlefsTer4
ENST00000649406.1:c.3359_3360insGTACATTTTATTATAATATACCGGTT ENSP00000497965.1:p.Lys1122IlefsTer4
ENST00000649781.1:c.3359_3360insGTACATTTTATTATAATATACCGGTT ENSP00000497203.1:p.Lys1122IlefsTer4
ENST00000003084.10:c.3542_3543insGTACATTTTATTATAATATACCGGTT ENSP00000003084.6:p.Lys1183IlefsTer4
ENST00000426809.5:c.3452_3453insGTACATTTTATTATAATATACCGGTT ENSP00000389119.1:p.Lys1153IlefsTer4
ENST00000468795.1:c.367_368insGTACATTTTATTATAATATACCGGTT
NM_000492.3:c.3542_3543insGTACATTTTATTATAATATACCGGTT , LRG_663t1:c.3542_3543insGTACATTTTATTATAATATACCGGTT NP_000483.3:p.Lys1183IlefsTer4
XM_011515751.1:c.3632_3633insGTACATTTTATTATAATATACCGGTT XP_011514053.1:p.Lys1213IlefsTer4
XM_011515752.1:c.3632_3633insGTACATTTTATTATAATATACCGGTT XP_011514054.1:p.Lys1213IlefsTer4
XM_011515753.1:c.3299_3300insGTACATTTTATTATAATATACCGGTT XP_011514055.1:p.Lys1102IlefsTer4
XM_011515754.1:c.3299_3300insGTACATTTTATTATAATATACCGGTT XP_011514056.1:p.Lys1102IlefsTer4
NM_000492.4:c.3542_3543insGTACATTTTATTATAATATACCGGTT MANE Select NP_000483.3:p.Lys1183IlefsTer4