Canonical Allele Identifier: CA327007
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs397508477

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610532_117610533del , CM000669.2:g.117610532_117610533del GRCh38
NC_000007.13:g.117250586_117250587del , CM000669.1:g.117250586_117250587del GRCh37
NC_000007.12:g.117037822_117037823del NCBI36
NG_016465.4:g.149749_149750del , LRG_663:g.149749_149750del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3002_3003del ENSP00000497673.2:p.Val1001AspfsTer?
ENST00000647978.2:c.*2716_*2717del ENSP00000497658.1:n.*2716_*2717del
ENST00000649781.2:c.2819_2820del ENSP00000497203.1:p.Val940AspfsTer?
ENST00000685018.2:c.3002_3003del ENSP00000510194.2:p.Val1001AspfsTer?
ENST00000687278.2:c.3002_3003del ENSP00000509593.2:p.Val1001AspfsTer?
ENST00000699585.1:c.3002_3003del ENSP00000514456.1:p.Val1001AspfsTer?
ENST00000699598.1:c.3002_3003del ENSP00000514467.1:p.Val1001AspfsTer?
ENST00000699599.1:c.3002_3003del ENSP00000514468.1:p.Val1001AspfsTer?
ENST00000699600.1:c.3002_3003del ENSP00000514469.1:p.Val1001AspfsTer?
ENST00000699601.1:c.*1302_*1303del ENSP00000514470.1:n.*1302_*1303del
ENST00000699602.1:c.3002_3003del ENSP00000514471.1:p.Val1001AspfsTer?
ENST00000699604.1:c.*2826_*2827del ENSP00000514472.1:n.*2826_*2827del
ENST00000699605.1:c.2576_2577del ENSP00000514473.1:p.Val859AspfsTer?
ENST00000687278.1:c.593_594del ENSP00000509593.1:p.Val198AspfsTer?
ENST00000003084.11:c.3002_3003del MANE Select ENSP00000003084.6:p.Val1001AspfsTer?
ENST00000647720.1:c.652_653del
ENST00000648260.1:c.1784_1785del ENSP00000497957.1:p.Val595AspfsTer?
ENST00000649406.1:c.2819_2820del ENSP00000497965.1:p.Val940AspfsTer?
ENST00000649781.1:c.2819_2820del ENSP00000497203.1:p.Val940AspfsTer?
ENST00000003084.10:c.3002_3003del ENSP00000003084.6:p.Val1001AspfsTer?
ENST00000426809.5:c.2912_2913del ENSP00000389119.1:p.Val971AspfsTer?
NM_000492.3:c.3002_3003del , LRG_663t1:c.3002_3003del NP_000483.3:p.Val1001AspfsTer?
XM_011515751.1:c.3092_3093del XP_011514053.1:p.Val1031AspfsTer?
XM_011515752.1:c.3092_3093del XP_011514054.1:p.Val1031AspfsTer?
XM_011515753.1:c.2759_2760del XP_011514055.1:p.Val920AspfsTer?
XM_011515754.1:c.2759_2760del XP_011514056.1:p.Val920AspfsTer?
NM_000492.4:c.3002_3003del MANE Select NP_000483.3:p.Val1001AspfsTer?