Canonical Allele Identifier: CA2580079313
Gene: FKTN HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105618018_105618021delinsTT , CM000671.2:g.105618018_105618021delinsTT GRCh38
NC_000009.11:g.108380299_108380302delinsTT , CM000671.1:g.108380299_108380302delinsTT GRCh37
NC_000009.10:g.107420120_107420123delinsTT NCBI36
NG_008754.1:g.64889_64892delinsTT , LRG_434:g.64889_64892delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000357998.10:c.970_973delinsTT MANE Select ENSP00000350687.6:p.Ile324LeufsTer6
ENST00000602661.6:c.*578_*581delinsTT ENSP00000473540.2:n.*578_*581delinsTT
ENST00000642177.1:c.970_973delinsTT ENSP00000495864.1:p.Ile324LeufsTer6
ENST00000642537.1:c.*832_*835delinsTT ENSP00000495945.1:n.*832_*835delinsTT
ENST00000642644.1:c.*1093_*1096delinsTT ENSP00000494674.1:n.*1093_*1096delinsTT
ENST00000642952.1:c.995_998delinsTT ENSP00000493886.1:n.995_998delinsTT
ENST00000645933.1:c.*968_*971delinsTT ENSP00000495852.1:n.*968_*971delinsTT
ENST00000674563.1:c.970_973delinsTT ENSP00000502153.1:p.Ile324LeufsTer6
ENST00000674633.1:c.970_973delinsTT ENSP00000502164.1:p.Ile324LeufsTer6
ENST00000675668.1:c.970_973delinsTT ENSP00000502113.1:p.Ile324LeufsTer6
ENST00000675695.1:c.781-1916_781-1913delinsTT ENSP00000502460.1:n.781-1916_781-1913delinsTT
ENST00000675736.1:c.*578_*581delinsTT ENSP00000502809.1:n.*578_*581delinsTT
ENST00000676011.1:n.2134_2137delinsTT
ENST00000676310.1:c.970_973delinsTT ENSP00000501585.1:p.Ile324LeufsTer6
ENST00000676371.1:c.*777_*780delinsTT ENSP00000501556.1:n.*777_*780delinsTT
ENST00000223528.6:c.970_973delinsTT ENSP00000223528.2:p.Ile324LeufsTer6
ENST00000357998.9:c.970_973delinsTT ENSP00000350687.5:p.Ile324LeufsTer6
ENST00000448551.6:c.970_973delinsTT ENSP00000399140.2:p.Ile324LeufsTer6
ENST00000457847.1:c.60_63delinsTT
ENST00000602526.1:c.*1008_*1011delinsTT ENSP00000473347.1:n.*1008_*1011delinsTT
ENST00000602661.5:c.970_973delinsTT ENSP00000473540.1:p.Ile324LeufsTer6
NM_001079802.1:c.970_973delinsTT , LRG_434t1:c.970_973delinsTT NP_001073270.1:p.Ile324LeufsTer6
NM_001198963.1:c.970_973delinsTT NP_001185892.1:p.Ile324LeufsTer6
NM_006731.2:c.970_973delinsTT , LRG_434t2:c.970_973delinsTT NP_006722.2:p.Ile324LeufsTer6
XM_006717014.2:c.780+10067_780+10070delinsTT XP_006717077.1:n.780+10067_780+10070delinsTT
XM_011518368.1:c.970_973delinsTT XP_011516670.1:p.Ile324LeufsTer6
XM_011518369.1:c.970_973delinsTT XP_011516671.1:p.Ile324LeufsTer6
XM_011518370.1:c.970_973delinsTT XP_011516672.1:p.Ile324LeufsTer6
XM_011518371.1:c.970_973delinsTT XP_011516673.1:p.Ile324LeufsTer6
XM_011518372.1:c.970_973delinsTT XP_011516674.1:p.Ile324LeufsTer6
XM_011518373.1:c.970_973delinsTT XP_011516675.1:p.Ile324LeufsTer6
XM_011518374.1:c.970_973delinsTT XP_011516676.1:p.Ile324LeufsTer6
XM_011518375.1:c.970_973delinsTT XP_011516677.1:p.Ile324LeufsTer6
XM_011518376.1:c.970_973delinsTT XP_011516678.1:p.Ile324LeufsTer6
XM_011518377.1:c.967_970delinsTT XP_011516679.1:p.Ile323LeufsTer6
XM_011518378.1:c.970_973delinsTT XP_011516680.1:p.Ile324LeufsTer6
XM_011518379.1:c.901_904delinsTT XP_011516681.1:p.Ile301LeufsTer6
XM_011518380.1:c.970_973delinsTT XP_011516682.1:p.Ile324LeufsTer6
XM_011518381.1:c.784_787delinsTT XP_011516683.1:p.Ile262LeufsTer6
XM_011518382.1:c.784_787delinsTT XP_011516684.1:p.Ile262LeufsTer6
XM_011518383.1:c.784_787delinsTT XP_011516685.1:p.Ile262LeufsTer6
XM_011518384.1:c.784_787delinsTT XP_011516686.1:p.Ile262LeufsTer6
XM_011518385.1:c.784_787delinsTT XP_011516687.1:p.Ile262LeufsTer6
XM_011518386.1:c.970_973delinsTT XP_011516688.1:p.Ile324LeufsTer6
XM_011518387.1:c.781-1916_781-1913delinsTT XP_011516689.1:n.781-1916_781-1913delinsTT
XM_011518388.1:c.970_973delinsTT XP_011516690.1:p.Ile324LeufsTer6
XM_011518389.1:c.970_973delinsTT XP_011516691.1:p.Ile324LeufsTer6
XM_011518390.1:c.574_577delinsTT XP_011516692.1:p.Ile192LeufsTer6
XM_011518391.1:c.780+10067_780+10070delinsTT XP_011516693.1:n.780+10067_780+10070delinsTT
NM_001351496.1:c.970_973delinsTT NP_001338425.1:p.Ile324LeufsTer6
NM_001351497.1:c.901_904delinsTT NP_001338426.1:p.Ile301LeufsTer6
NM_001351498.1:c.970_973delinsTT NP_001338427.1:p.Ile324LeufsTer6
NM_001351499.1:c.574_577delinsTT NP_001338428.1:p.Ile192LeufsTer6
NM_001351500.1:c.574_577delinsTT NP_001338429.1:p.Ile192LeufsTer6
NM_001351501.1:c.574_577delinsTT NP_001338430.1:p.Ile192LeufsTer6
NM_001351502.1:c.574_577delinsTT NP_001338431.1:p.Ile192LeufsTer6
NR_147213.1:n.997-1916_997-1913delinsTT
NR_147214.1:n.1094_1097delinsTT
XM_011518368.2:c.970_973delinsTT XP_011516670.1:p.Ile324LeufsTer6
XM_011518369.2:c.970_973delinsTT XP_011516671.1:p.Ile324LeufsTer6
XM_011518370.2:c.970_973delinsTT XP_011516672.1:p.Ile324LeufsTer6
XM_011518371.2:c.970_973delinsTT XP_011516673.1:p.Ile324LeufsTer6
XM_011518373.2:c.970_973delinsTT XP_011516675.1:p.Ile324LeufsTer6
XM_011518374.2:c.970_973delinsTT XP_011516676.1:p.Ile324LeufsTer6
XM_011518375.2:c.970_973delinsTT XP_011516677.1:p.Ile324LeufsTer6
XM_011518376.2:c.970_973delinsTT XP_011516678.1:p.Ile324LeufsTer6
XM_011518378.2:c.970_973delinsTT XP_011516680.1:p.Ile324LeufsTer6
XM_011518379.2:c.901_904delinsTT XP_011516681.1:p.Ile301LeufsTer6
XM_011518381.3:c.784_787delinsTT XP_011516683.1:p.Ile262LeufsTer6
XM_011518387.2:c.781-1916_781-1913delinsTT XP_011516689.1:n.781-1916_781-1913delinsTT
XM_011518390.2:c.574_577delinsTT XP_011516692.1:p.Ile192LeufsTer6
XM_011518391.2:c.780+10067_780+10070delinsTT XP_011516693.1:n.780+10067_780+10070delinsTT
XM_017014462.1:c.970_973delinsTT XP_016869951.1:p.Ile324LeufsTer6
XM_017014463.1:c.970_973delinsTT XP_016869952.1:p.Ile324LeufsTer6
XM_017014464.1:c.970_973delinsTT XP_016869953.1:p.Ile324LeufsTer6
XM_017014465.1:c.970_973delinsTT XP_016869954.1:p.Ile324LeufsTer6
XM_017014467.1:c.970_973delinsTT XP_016869956.1:p.Ile324LeufsTer6
XM_017014468.1:c.970_973delinsTT XP_016869957.1:p.Ile324LeufsTer6
XM_017014469.1:c.970_973delinsTT XP_016869958.1:p.Ile324LeufsTer6
XM_017014470.1:c.970_973delinsTT XP_016869959.1:p.Ile324LeufsTer6
XM_017014472.2:c.784_787delinsTT XP_016869961.1:p.Ile262LeufsTer6
XM_017014473.2:c.784_787delinsTT XP_016869962.1:p.Ile262LeufsTer6
XM_017014475.1:c.781-1916_781-1913delinsTT XP_016869964.1:n.781-1916_781-1913delinsTT
XR_001746242.2:n.1334_1337delinsTT
XR_001746243.2:n.1334_1337delinsTT
XR_001746244.2:n.1334_1337delinsTT
XR_001746245.1:n.1184_1187delinsTT
XR_001746248.1:n.2277_2280delinsTT
XR_002956770.1:n.1184_1187delinsTT
NM_001079802.2:c.970_973delinsTT MANE Select NP_001073270.1:p.Ile324LeufsTer6
NM_001198963.2:c.970_973delinsTT NP_001185892.1:p.Ile324LeufsTer6
NM_001351496.2:c.970_973delinsTT NP_001338425.1:p.Ile324LeufsTer6
NM_001351497.2:c.901_904delinsTT NP_001338426.1:p.Ile301LeufsTer6
NM_001351498.2:c.970_973delinsTT NP_001338427.1:p.Ile324LeufsTer6
NM_001351499.2:c.574_577delinsTT NP_001338428.1:p.Ile192LeufsTer6
NM_001351500.2:c.574_577delinsTT NP_001338429.1:p.Ile192LeufsTer6
NM_001351501.2:c.574_577delinsTT NP_001338430.1:p.Ile192LeufsTer6
NM_001351502.2:c.574_577delinsTT NP_001338431.1:p.Ile192LeufsTer6
NR_147213.2:n.996-1916_996-1913delinsTT
NR_147214.2:n.1093_1096delinsTT
Search 100 bp 5'
Search 100 bp 3'