Canonical Allele Identifier: CA295371
Community Standard Title: NM_001079802.2(FKTN):c.1371_1381dup (p.Tyr461LeufsTer10)
Gene: FKTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105635249_105635259dup , CM000671.2:g.105635249_105635259dup GRCh38
NC_000009.11:g.108397530_108397540dup , CM000671.1:g.108397530_108397540dup GRCh37
NC_000009.10:g.107437351_107437361dup NCBI36
NG_008754.1:g.82120_82130dup , LRG_434:g.82120_82130dup

Transcript Alleles

HGVS Amino-acid Change
NM_001079802.2:c.1371_1381dup MANE Select NP_001073270.1:p.Tyr461LeufsTer10
ENST00000357998.10:c.1371_1381dup MANE Select ENSP00000350687.6:p.Tyr461LeufsTer10
NM_001079802.1:c.1371_1381dup , LRG_434t1:c.1371_1381dup NP_001073270.1:p.Tyr461LeufsTer10
NM_001198963.1:c.1270+101_1270+111dup NP_001185892.1:n.1270+101_1270+111dup
NM_001198963.2:c.1270+101_1270+111dup NP_001185892.1:n.1270+101_1270+111dup
NM_001351496.1:c.1371_1381dup NP_001338425.1:p.Tyr461LeufsTer10
NM_001351496.2:c.1371_1381dup NP_001338425.1:p.Tyr461LeufsTer10
NM_001351497.1:c.1302_1312dup NP_001338426.1:p.Tyr438LeufsTer10
NM_001351497.2:c.1302_1312dup NP_001338426.1:p.Tyr438LeufsTer10
NM_001351498.1:c.*163_*173dup NP_001338427.1:n.*163_*173dup
NM_001351498.2:c.*163_*173dup NP_001338427.1:n.*163_*173dup
NM_001351499.1:c.975_985dup NP_001338428.1:p.Tyr329LeufsTer10
NM_001351499.2:c.975_985dup NP_001338428.1:p.Tyr329LeufsTer10
NM_001351500.1:c.975_985dup NP_001338429.1:p.Tyr329LeufsTer10
NM_001351500.2:c.975_985dup NP_001338429.1:p.Tyr329LeufsTer10
NM_001351501.1:c.975_985dup NP_001338430.1:p.Tyr329LeufsTer10
NM_001351501.2:c.975_985dup NP_001338430.1:p.Tyr329LeufsTer10
NM_001351502.1:c.975_985dup NP_001338431.1:p.Tyr329LeufsTer10
NM_001351502.2:c.975_985dup NP_001338431.1:p.Tyr329LeufsTer10
NM_006731.2:c.1371_1381dup , LRG_434t2:c.1371_1381dup NP_006722.2:p.Tyr461LeufsTer10
NR_147213.1:n.1495_1505dup
NR_147213.2:n.1494_1504dup
NR_147214.1:n.1667_1677dup
NR_147214.2:n.1666_1676dup
ENST00000223528.6:c.1371_1381dup ENSP00000223528.2:p.Tyr461LeufsTer10
ENST00000357998.9:c.1270+101_1270+111dup ENSP00000350687.5:n.1270+101_1270+111dup
ENST00000448551.6:c.1270+101_1270+111dup ENSP00000399140.2:n.1270+101_1270+111dup
ENST00000457847.1:c.360+101_360+111dup
ENST00000602526.1:c.*1409_*1419dup ENSP00000473347.1:n.*1409_*1419dup
ENST00000602661.5:c.1371_1381dup ENSP00000473540.1:p.Tyr461LeufsTer10
ENST00000602661.6:c.*979_*989dup ENSP00000473540.2:n.*979_*989dup
ENST00000642177.1:c.*485+101_*485+111dup ENSP00000495864.1:n.*485+101_*485+111dup
ENST00000642537.1:c.*1538+101_*1538+111dup ENSP00000495945.1:n.*1538+101_*1538+111dup
ENST00000642952.1:c.1610+101_1610+111dup ENSP00000493886.1:n.1610+101_1610+111dup
ENST00000644273.1:c.553+101_553+111dup
ENST00000645933.1:c.*1583+101_*1583+111dup ENSP00000495852.1:n.*1583+101_*1583+111dup
ENST00000674563.1:c.*352_*362dup ENSP00000502153.1:n.*352_*362dup
ENST00000674633.1:c.1270+101_1270+111dup ENSP00000502164.1:n.1270+101_1270+111dup
ENST00000675695.1:c.*352_*362dup ENSP00000502460.1:n.*352_*362dup
ENST00000675736.1:c.*1151_*1161dup ENSP00000502809.1:n.*1151_*1161dup
ENST00000676011.1:n.2735_2745dup
ENST00000676310.1:c.1270+101_1270+111dup ENSP00000501585.1:n.1270+101_1270+111dup
XM_006717014.2:c.*163_*173dup XP_006717077.1:n.*163_*173dup
XM_011518391.2:c.*163_*173dup XP_011516693.1:n.*163_*173dup
XM_017014464.1:c.1270+101_1270+111dup XP_016869953.1:n.1270+101_1270+111dup
XM_017014465.1:c.1270+101_1270+111dup XP_016869954.1:n.1270+101_1270+111dup
XM_017014467.1:c.1371_1381dup XP_016869956.1:p.Tyr461LeufsTer10
XM_017014468.1:c.1371_1381dup XP_016869957.1:p.Tyr461LeufsTer10
XM_017014469.1:c.1270+101_1270+111dup XP_016869958.1:n.1270+101_1270+111dup
XM_017014470.1:c.1270+101_1270+111dup XP_016869959.1:n.1270+101_1270+111dup
XR_001746242.2:n.1837+101_1837+111dup
XR_001746244.2:n.1665+101_1665+111dup
XR_001746245.1:n.1757_1767dup
XR_001746248.1:n.2850_2860dup
XR_002956770.1:n.1613_1623dup