Canonical Allele Identifier: CA2695208524
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592648_117592649insT , CM000669.2:g.117592648_117592649insT GRCh38
NC_000007.13:g.117232702_117232703insT , CM000669.1:g.117232702_117232703insT GRCh37
NC_000007.12:g.117019938_117019939insT NCBI36
NG_016465.4:g.131865_131866insT , LRG_663:g.131865_131866insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2481_2482insT ENSP00000497673.2:p.Asp828Ter
ENST00000647978.2:c.*2195_*2196insT ENSP00000497658.1:n.*2195_*2196insT
ENST00000649781.2:c.2298_2299insT ENSP00000497203.1:p.Asp767Ter
ENST00000685018.2:c.2481_2482insT ENSP00000510194.2:p.Asp828Ter
ENST00000687278.2:c.2481_2482insT ENSP00000509593.2:p.Asp828Ter
ENST00000699585.1:c.2481_2482insT ENSP00000514456.1:p.Asp828Ter
ENST00000699598.1:c.2481_2482insT ENSP00000514467.1:p.Asp828Ter
ENST00000699599.1:c.2481_2482insT ENSP00000514468.1:p.Asp828Ter
ENST00000699600.1:c.2481_2482insT ENSP00000514469.1:p.Asp828Ter
ENST00000699601.1:c.*781_*782insT ENSP00000514470.1:n.*781_*782insT
ENST00000699602.1:c.2481_2482insT ENSP00000514471.1:p.Asp828Ter
ENST00000699604.1:c.*2305_*2306insT ENSP00000514472.1:n.*2305_*2306insT
ENST00000699605.1:c.2055_2056insT ENSP00000514473.1:p.Asp686Ter
ENST00000687278.1:c.72_73insT ENSP00000509593.1:p.Asp25Ter
ENST00000003084.11:c.2481_2482insT MANE Select ENSP00000003084.6:p.Asp828Ter
ENST00000647720.1:c.131_132insT
ENST00000647978.1:c.*2195_*2196insT ENSP00000497658.1:n.*2195_*2196insT
ENST00000648260.1:c.1402-10178_1402-10177insT ENSP00000497957.1:n.1402-10178_1402-10177insT
ENST00000649406.1:c.2298_2299insT ENSP00000497965.1:p.Asp767Ter
ENST00000649781.1:c.2298_2299insT ENSP00000497203.1:p.Asp767Ter
ENST00000003084.10:c.2481_2482insT ENSP00000003084.6:p.Asp828Ter
ENST00000426809.5:c.2391_2392insT ENSP00000389119.1:p.Asp798Ter
NM_000492.3:c.2481_2482insT , LRG_663t1:c.2481_2482insT NP_000483.3:p.Asp828Ter
XM_011515751.1:c.2571_2572insT XP_011514053.1:p.Asp858Ter
XM_011515752.1:c.2571_2572insT XP_011514054.1:p.Asp858Ter
XM_011515753.1:c.2238_2239insT XP_011514055.1:p.Asp747Ter
XM_011515754.1:c.2238_2239insT XP_011514056.1:p.Asp747Ter
NM_000492.4:c.2481_2482insT MANE Select NP_000483.3:p.Asp828Ter