Canonical Allele Identifier: CA2580079314
Gene: FKTN HGNC NCBI

Linked Data

ClinVar Variation Id: 1724953
ClinVar RCV Id: RCV002308012
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105604273_105604274delinsT , CM000671.2:g.105604273_105604274delinsT GRCh38
NC_000009.11:g.108366554_108366555delinsT , CM000671.1:g.108366554_108366555delinsT GRCh37
NC_000009.10:g.107406375_107406376delinsT NCBI36
NG_008754.1:g.51144_51145delinsT , LRG_434:g.51144_51145delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000357998.10:c.428_429delinsT MANE Select ENSP00000350687.6:p.Lys143MetfsTer5
ENST00000374705.5:c.439_440delinsT ENSP00000363837.5:n.439_440delinsT
ENST00000602661.6:c.*36_*37delinsT ENSP00000473540.2:n.*36_*37delinsT
ENST00000642177.1:c.428_429delinsT ENSP00000495864.1:p.Lys143MetfsTer5
ENST00000642537.1:c.*290_*291delinsT ENSP00000495945.1:n.*290_*291delinsT
ENST00000642644.1:c.*551_*552delinsT ENSP00000494674.1:n.*551_*552delinsT
ENST00000642952.1:c.453_454delinsT ENSP00000493886.1:n.453_454delinsT
ENST00000645933.1:c.*426_*427delinsT ENSP00000495852.1:n.*426_*427delinsT
ENST00000674563.1:c.428_429delinsT ENSP00000502153.1:p.Lys143MetfsTer5
ENST00000674633.1:c.428_429delinsT ENSP00000502164.1:p.Lys143MetfsTer5
ENST00000675232.1:c.*563_*564delinsT ENSP00000502043.1:n.*563_*564delinsT
ENST00000675443.1:c.*36_*37delinsT ENSP00000502643.1:n.*36_*37delinsT
ENST00000675668.1:c.428_429delinsT ENSP00000502113.1:p.Lys143MetfsTer5
ENST00000675695.1:c.428_429delinsT ENSP00000502460.1:p.Lys143MetfsTer5
ENST00000675736.1:c.*36_*37delinsT ENSP00000502809.1:n.*36_*37delinsT
ENST00000676011.1:n.1595_1596delinsT
ENST00000676192.1:c.*348_*349delinsT ENSP00000502158.1:n.*348_*349delinsT
ENST00000676310.1:c.428_429delinsT ENSP00000501585.1:p.Lys143MetfsTer5
ENST00000676371.1:c.*235_*236delinsT ENSP00000501556.1:n.*235_*236delinsT
ENST00000223528.6:c.428_429delinsT ENSP00000223528.2:p.Lys143MetfsTer5
ENST00000357998.9:c.428_429delinsT ENSP00000350687.5:p.Lys143MetfsTer5
ENST00000374705.4:c.359_360delinsT ENSP00000363837.4:p.Lys120MetfsTer5
ENST00000448551.6:c.428_429delinsT ENSP00000399140.2:p.Lys143MetfsTer5
ENST00000602526.1:c.*466_*467delinsT ENSP00000473347.1:n.*466_*467delinsT
ENST00000602661.5:c.428_429delinsT ENSP00000473540.1:p.Lys143MetfsTer5
NM_001079802.1:c.428_429delinsT , LRG_434t1:c.428_429delinsT NP_001073270.1:p.Lys143MetfsTer5
NM_001198963.1:c.428_429delinsT NP_001185892.1:p.Lys143MetfsTer5
NM_006731.2:c.428_429delinsT , LRG_434t2:c.428_429delinsT NP_006722.2:p.Lys143MetfsTer5
XM_006717014.2:c.428_429delinsT XP_006717077.1:p.Lys143MetfsTer5
XM_011518368.1:c.428_429delinsT XP_011516670.1:p.Lys143MetfsTer5
XM_011518369.1:c.428_429delinsT XP_011516671.1:p.Lys143MetfsTer5
XM_011518370.1:c.428_429delinsT XP_011516672.1:p.Lys143MetfsTer5
XM_011518371.1:c.428_429delinsT XP_011516673.1:p.Lys143MetfsTer5
XM_011518372.1:c.428_429delinsT XP_011516674.1:p.Lys143MetfsTer5
XM_011518373.1:c.428_429delinsT XP_011516675.1:p.Lys143MetfsTer5
XM_011518374.1:c.428_429delinsT XP_011516676.1:p.Lys143MetfsTer5
XM_011518375.1:c.428_429delinsT XP_011516677.1:p.Lys143MetfsTer5
XM_011518376.1:c.428_429delinsT XP_011516678.1:p.Lys143MetfsTer5
XM_011518377.1:c.428_429delinsT XP_011516679.1:p.Lys143MetfsTer5
XM_011518378.1:c.428_429delinsT XP_011516680.1:p.Lys143MetfsTer5
XM_011518379.1:c.359_360delinsT XP_011516681.1:p.Lys120MetfsTer5
XM_011518380.1:c.428_429delinsT XP_011516682.1:p.Lys143MetfsTer5
XM_011518381.1:c.242_243delinsT XP_011516683.1:p.Lys81MetfsTer5
XM_011518382.1:c.242_243delinsT XP_011516684.1:p.Lys81MetfsTer5
XM_011518383.1:c.242_243delinsT XP_011516685.1:p.Lys81MetfsTer5
XM_011518384.1:c.242_243delinsT XP_011516686.1:p.Lys81MetfsTer5
XM_011518385.1:c.242_243delinsT XP_011516687.1:p.Lys81MetfsTer5
XM_011518386.1:c.428_429delinsT XP_011516688.1:p.Lys143MetfsTer5
XM_011518387.1:c.428_429delinsT XP_011516689.1:p.Lys143MetfsTer5
XM_011518388.1:c.428_429delinsT XP_011516690.1:p.Lys143MetfsTer5
XM_011518389.1:c.428_429delinsT XP_011516691.1:p.Lys143MetfsTer5
XM_011518390.1:c.32_33delinsT XP_011516692.1:p.Lys11MetfsTer5
XM_011518391.1:c.428_429delinsT XP_011516693.1:p.Lys143MetfsTer5
NM_001351496.1:c.428_429delinsT NP_001338425.1:p.Lys143MetfsTer5
NM_001351497.1:c.359_360delinsT NP_001338426.1:p.Lys120MetfsTer5
NM_001351498.1:c.428_429delinsT NP_001338427.1:p.Lys143MetfsTer5
NM_001351499.1:c.32_33delinsT NP_001338428.1:p.Lys11MetfsTer5
NM_001351500.1:c.32_33delinsT NP_001338429.1:p.Lys11MetfsTer5
NM_001351501.1:c.32_33delinsT NP_001338430.1:p.Lys11MetfsTer5
NM_001351502.1:c.32_33delinsT NP_001338431.1:p.Lys11MetfsTer5
NR_147213.1:n.644_645delinsT
NR_147214.1:n.552_553delinsT
XM_011518368.2:c.428_429delinsT XP_011516670.1:p.Lys143MetfsTer5
XM_011518369.2:c.428_429delinsT XP_011516671.1:p.Lys143MetfsTer5
XM_011518370.2:c.428_429delinsT XP_011516672.1:p.Lys143MetfsTer5
XM_011518371.2:c.428_429delinsT XP_011516673.1:p.Lys143MetfsTer5
XM_011518373.2:c.428_429delinsT XP_011516675.1:p.Lys143MetfsTer5
XM_011518374.2:c.428_429delinsT XP_011516676.1:p.Lys143MetfsTer5
XM_011518375.2:c.428_429delinsT XP_011516677.1:p.Lys143MetfsTer5
XM_011518376.2:c.428_429delinsT XP_011516678.1:p.Lys143MetfsTer5
XM_011518378.2:c.428_429delinsT XP_011516680.1:p.Lys143MetfsTer5
XM_011518379.2:c.359_360delinsT XP_011516681.1:p.Lys120MetfsTer5
XM_011518381.3:c.242_243delinsT XP_011516683.1:p.Lys81MetfsTer5
XM_011518387.2:c.428_429delinsT XP_011516689.1:p.Lys143MetfsTer5
XM_011518390.2:c.32_33delinsT XP_011516692.1:p.Lys11MetfsTer5
XM_011518391.2:c.428_429delinsT XP_011516693.1:p.Lys143MetfsTer5
XM_017014462.1:c.428_429delinsT XP_016869951.1:p.Lys143MetfsTer5
XM_017014463.1:c.428_429delinsT XP_016869952.1:p.Lys143MetfsTer5
XM_017014464.1:c.428_429delinsT XP_016869953.1:p.Lys143MetfsTer5
XM_017014465.1:c.428_429delinsT XP_016869954.1:p.Lys143MetfsTer5
XM_017014467.1:c.428_429delinsT XP_016869956.1:p.Lys143MetfsTer5
XM_017014468.1:c.428_429delinsT XP_016869957.1:p.Lys143MetfsTer5
XM_017014469.1:c.428_429delinsT XP_016869958.1:p.Lys143MetfsTer5
XM_017014470.1:c.428_429delinsT XP_016869959.1:p.Lys143MetfsTer5
XM_017014472.2:c.242_243delinsT XP_016869961.1:p.Lys81MetfsTer5
XM_017014473.2:c.242_243delinsT XP_016869962.1:p.Lys81MetfsTer5
XM_017014475.1:c.428_429delinsT XP_016869964.1:p.Lys143MetfsTer5
XR_001746242.2:n.792_793delinsT
XR_001746243.2:n.792_793delinsT
XR_001746244.2:n.792_793delinsT
XR_001746245.1:n.642_643delinsT
XR_001746248.1:n.1735_1736delinsT
XR_002956770.1:n.642_643delinsT
NM_001079802.2:c.428_429delinsT MANE Select NP_001073270.1:p.Lys143MetfsTer5
NM_001198963.2:c.428_429delinsT NP_001185892.1:p.Lys143MetfsTer5
NM_001351496.2:c.428_429delinsT NP_001338425.1:p.Lys143MetfsTer5
NM_001351497.2:c.359_360delinsT NP_001338426.1:p.Lys120MetfsTer5
NM_001351498.2:c.428_429delinsT NP_001338427.1:p.Lys143MetfsTer5
NM_001351499.2:c.32_33delinsT NP_001338428.1:p.Lys11MetfsTer5
NM_001351500.2:c.32_33delinsT NP_001338429.1:p.Lys11MetfsTer5
NM_001351501.2:c.32_33delinsT NP_001338430.1:p.Lys11MetfsTer5
NM_001351502.2:c.32_33delinsT NP_001338431.1:p.Lys11MetfsTer5
NR_147213.2:n.643_644delinsT
NR_147214.2:n.551_552delinsT
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