Canonical Allele Identifier: CA2684621237
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117667084_117667086del , CM000669.2:g.117667084_117667086del GRCh38
NC_000007.13:g.117307138_117307140del , CM000669.1:g.117307138_117307140del GRCh37
NC_000007.12:g.117094374_117094376del NCBI36
NG_016465.4:g.206301_206303del , LRG_663:g.206301_206303del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*628_*630del ENSP00000497673.2:n.*628_*630del
ENST00000647978.2:c.*4133_*4135del ENSP00000497658.1:n.*4133_*4135del
ENST00000649781.2:c.4236_4238del ENSP00000497203.1:p.Glu1413del
ENST00000685018.2:c.*632_*634del ENSP00000510194.2:n.*632_*634del
ENST00000687278.2:c.*896-518_*896-516del ENSP00000509593.2:n.*896-518_*896-516del
ENST00000699585.1:c.*888_*890del ENSP00000514456.1:n.*888_*890del
ENST00000699598.1:c.*125_*127del ENSP00000514467.1:n.*125_*127del
ENST00000699599.1:c.*632_*634del ENSP00000514468.1:n.*632_*634del
ENST00000699600.1:c.*904-518_*904-516del ENSP00000514469.1:n.*904-518_*904-516del
ENST00000699601.1:c.*2794_*2796del ENSP00000514470.1:n.*2794_*2796del
ENST00000699602.1:c.4413_4415del ENSP00000514471.1:p.Glu1472del
ENST00000699604.1:c.*4243_*4245del ENSP00000514472.1:n.*4243_*4245del
ENST00000699605.1:c.3993_3995del ENSP00000514473.1:p.Glu1332del
ENST00000699606.1:n.3930_3932del
ENST00000685018.1:c.1283_1285del ENSP00000510194.1:n.1283_1285del
ENST00000687278.1:c.2030-518_2030-516del ENSP00000509593.1:n.2030-518_2030-516del
ENST00000689011.1:c.1261_1263del
ENST00000003084.11:c.4419_4421del MANE Select ENSP00000003084.6:p.Glu1474del
ENST00000647720.1:c.1869_1871del
ENST00000649781.1:c.4236_4238del ENSP00000497203.1:p.Glu1413del
ENST00000003084.10:c.4419_4421del ENSP00000003084.6:p.Glu1474del
ENST00000600166.1:c.368+1520_368+1522del
NM_000492.3:c.4419_4421del , LRG_663t1:c.4419_4421del NP_000483.3:p.Glu1474del
XM_011515751.1:c.4509_4511del XP_011514053.1:p.Glu1504del
XM_011515753.1:c.4176_4178del XP_011514055.1:p.Glu1393del
XM_011515754.1:c.4176_4178del XP_011514056.1:p.Glu1393del
NM_000492.4:c.4419_4421del MANE Select NP_000483.3:p.Glu1474del