Canonical Allele Identifier: CA1870286870
Gene: FKTN HGNC NCBI

Linked Data

dbSNP Id: rs1834056832

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105636613_105636616del , CM000671.2:g.105636613_105636616del GRCh38
NC_000009.11:g.108398894_108398897del , CM000671.1:g.108398894_108398897del GRCh37
NC_000009.10:g.107438715_107438718del NCBI36
NG_008754.1:g.83484_83487del , LRG_434:g.83484_83487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357998.10:c.*1349_*1352del MANE Select ENSP00000350687.6:n.*1349_*1352del
ENST00000642177.1:c.*486-60_*486-57del ENSP00000495864.1:n.*486-60_*486-57del
ENST00000642537.1:c.*1539-60_*1539-57del ENSP00000495945.1:n.*1539-60_*1539-57del
ENST00000642952.1:c.1610+1465_1610+1468del ENSP00000493886.1:n.1610+1465_1610+1468del
ENST00000644273.1:c.553+1465_553+1468del
ENST00000645933.1:c.*1584-60_*1584-57del ENSP00000495852.1:n.*1584-60_*1584-57del
ENST00000674563.1:c.*1716_*1719del ENSP00000502153.1:n.*1716_*1719del
ENST00000674633.1:c.1270+1465_1270+1468del ENSP00000502164.1:n.1270+1465_1270+1468del
ENST00000675695.1:c.*1716_*1719del ENSP00000502460.1:n.*1716_*1719del
ENST00000675736.1:c.*2515_*2518del ENSP00000502809.1:n.*2515_*2518del
ENST00000676011.1:n.4099_4102del
ENST00000676310.1:c.1270+1465_1270+1468del ENSP00000501585.1:n.1270+1465_1270+1468del
ENST00000223528.6:c.*1349_*1352del ENSP00000223528.2:n.*1349_*1352del
ENST00000357998.9:c.1270+1465_1270+1468del ENSP00000350687.5:n.1270+1465_1270+1468del
ENST00000448551.6:c.1270+1465_1270+1468del ENSP00000399140.2:n.1270+1465_1270+1468del
ENST00000457847.1:c.361-60_361-57del
ENST00000602526.1:c.*2773_*2776del ENSP00000473347.1:n.*2773_*2776del
NM_001079802.1:c.*1349_*1352del , LRG_434t1:c.*1349_*1352del NP_001073270.1:n.*1349_*1352del
NM_001198963.1:c.1270+1465_1270+1468del NP_001185892.1:n.1270+1465_1270+1468del
NM_006731.2:c.*1349_*1352del , LRG_434t2:c.*1349_*1352del NP_006722.2:n.*1349_*1352del
XM_006717014.2:c.*1527_*1530del XP_006717077.1:n.*1527_*1530del
NM_001351496.1:c.*1349_*1352del NP_001338425.1:n.*1349_*1352del
NM_001351497.1:c.*1349_*1352del NP_001338426.1:n.*1349_*1352del
NM_001351498.1:c.*1527_*1530del NP_001338427.1:n.*1527_*1530del
NM_001351499.1:c.*1349_*1352del NP_001338428.1:n.*1349_*1352del
NM_001351500.1:c.*1349_*1352del NP_001338429.1:n.*1349_*1352del
NM_001351501.1:c.*1349_*1352del NP_001338430.1:n.*1349_*1352del
NM_001351502.1:c.*1349_*1352del NP_001338431.1:n.*1349_*1352del
NR_147213.1:n.2859_2862del
NR_147214.1:n.3031_3034del
XM_011518391.2:c.*1527_*1530del XP_011516693.1:n.*1527_*1530del
XM_017014464.1:c.1270+1465_1270+1468del XP_016869953.1:n.1270+1465_1270+1468del
XM_017014465.1:c.1270+1465_1270+1468del XP_016869954.1:n.1270+1465_1270+1468del
XM_017014467.1:c.*1349_*1352del XP_016869956.1:n.*1349_*1352del
XM_017014468.1:c.*1349_*1352del XP_016869957.1:n.*1349_*1352del
XM_017014469.1:c.1270+1465_1270+1468del XP_016869958.1:n.1270+1465_1270+1468del
XM_017014470.1:c.1270+1465_1270+1468del XP_016869959.1:n.1270+1465_1270+1468del
XR_001746242.2:n.1837+1465_1837+1468del
XR_001746244.2:n.1665+1465_1665+1468del
XR_001746245.1:n.3121_3124del
XR_001746248.1:n.4214_4217del
XR_002956770.1:n.2977_2980del
NM_001079802.2:c.*1349_*1352del MANE Select NP_001073270.1:n.*1349_*1352del
NM_001198963.2:c.1270+1465_1270+1468del NP_001185892.1:n.1270+1465_1270+1468del
NM_001351496.2:c.*1349_*1352del NP_001338425.1:n.*1349_*1352del
NM_001351497.2:c.*1349_*1352del NP_001338426.1:n.*1349_*1352del
NM_001351498.2:c.*1527_*1530del NP_001338427.1:n.*1527_*1530del
NM_001351499.2:c.*1349_*1352del NP_001338428.1:n.*1349_*1352del
NM_001351500.2:c.*1349_*1352del NP_001338429.1:n.*1349_*1352del
NM_001351501.2:c.*1349_*1352del NP_001338430.1:n.*1349_*1352del
NM_001351502.2:c.*1349_*1352del NP_001338431.1:n.*1349_*1352del
NR_147213.2:n.2858_2861del
NR_147214.2:n.3030_3033del