Canonical Allele Identifier: CA1870286454
Gene: FKTN HGNC NCBI

Linked Data

dbSNP Id: rs1834042102

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105636459_105636492del , CM000671.2:g.105636459_105636492del GRCh38
NC_000009.11:g.108398740_108398773del , CM000671.1:g.108398740_108398773del GRCh37
NC_000009.10:g.107438561_107438594del NCBI36
NG_008754.1:g.83330_83363del , LRG_434:g.83330_83363del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357998.10:c.*1195_*1228del MANE Select ENSP00000350687.6:n.*1195_*1228del
ENST00000642177.1:c.*486-214_*486-181del ENSP00000495864.1:n.*486-214_*486-181del
ENST00000642537.1:c.*1539-214_*1539-181del ENSP00000495945.1:n.*1539-214_*1539-181del
ENST00000642952.1:c.1610+1311_1610+1344del ENSP00000493886.1:n.1610+1311_1610+1344del
ENST00000644273.1:c.553+1311_553+1344del
ENST00000645933.1:c.*1584-214_*1584-181del ENSP00000495852.1:n.*1584-214_*1584-181del
ENST00000674563.1:c.*1562_*1595del ENSP00000502153.1:n.*1562_*1595del
ENST00000674633.1:c.1270+1311_1270+1344del ENSP00000502164.1:n.1270+1311_1270+1344del
ENST00000675695.1:c.*1562_*1595del ENSP00000502460.1:n.*1562_*1595del
ENST00000675736.1:c.*2361_*2394del ENSP00000502809.1:n.*2361_*2394del
ENST00000676011.1:n.3945_3978del
ENST00000676310.1:c.1270+1311_1270+1344del ENSP00000501585.1:n.1270+1311_1270+1344del
ENST00000223528.6:c.*1195_*1228del ENSP00000223528.2:n.*1195_*1228del
ENST00000357998.9:c.1270+1311_1270+1344del ENSP00000350687.5:n.1270+1311_1270+1344del
ENST00000448551.6:c.1270+1311_1270+1344del ENSP00000399140.2:n.1270+1311_1270+1344del
ENST00000457847.1:c.361-214_361-181del
ENST00000602526.1:c.*2619_*2652del ENSP00000473347.1:n.*2619_*2652del
NM_001079802.1:c.*1195_*1228del , LRG_434t1:c.*1195_*1228del NP_001073270.1:n.*1195_*1228del
NM_001198963.1:c.1270+1311_1270+1344del NP_001185892.1:n.1270+1311_1270+1344del
NM_006731.2:c.*1195_*1228del , LRG_434t2:c.*1195_*1228del NP_006722.2:n.*1195_*1228del
XM_006717014.2:c.*1373_*1406del XP_006717077.1:n.*1373_*1406del
NM_001351496.1:c.*1195_*1228del NP_001338425.1:n.*1195_*1228del
NM_001351497.1:c.*1195_*1228del NP_001338426.1:n.*1195_*1228del
NM_001351498.1:c.*1373_*1406del NP_001338427.1:n.*1373_*1406del
NM_001351499.1:c.*1195_*1228del NP_001338428.1:n.*1195_*1228del
NM_001351500.1:c.*1195_*1228del NP_001338429.1:n.*1195_*1228del
NM_001351501.1:c.*1195_*1228del NP_001338430.1:n.*1195_*1228del
NM_001351502.1:c.*1195_*1228del NP_001338431.1:n.*1195_*1228del
NR_147213.1:n.2705_2738del
NR_147214.1:n.2877_2910del
XM_011518391.2:c.*1373_*1406del XP_011516693.1:n.*1373_*1406del
XM_017014464.1:c.1270+1311_1270+1344del XP_016869953.1:n.1270+1311_1270+1344del
XM_017014465.1:c.1270+1311_1270+1344del XP_016869954.1:n.1270+1311_1270+1344del
XM_017014467.1:c.*1195_*1228del XP_016869956.1:n.*1195_*1228del
XM_017014468.1:c.*1195_*1228del XP_016869957.1:n.*1195_*1228del
XM_017014469.1:c.1270+1311_1270+1344del XP_016869958.1:n.1270+1311_1270+1344del
XM_017014470.1:c.1270+1311_1270+1344del XP_016869959.1:n.1270+1311_1270+1344del
XR_001746242.2:n.1837+1311_1837+1344del
XR_001746244.2:n.1665+1311_1665+1344del
XR_001746245.1:n.2967_3000del
XR_001746248.1:n.4060_4093del
XR_002956770.1:n.2823_2856del
NM_001079802.2:c.*1195_*1228del MANE Select NP_001073270.1:n.*1195_*1228del
NM_001198963.2:c.1270+1311_1270+1344del NP_001185892.1:n.1270+1311_1270+1344del
NM_001351496.2:c.*1195_*1228del NP_001338425.1:n.*1195_*1228del
NM_001351497.2:c.*1195_*1228del NP_001338426.1:n.*1195_*1228del
NM_001351498.2:c.*1373_*1406del NP_001338427.1:n.*1373_*1406del
NM_001351499.2:c.*1195_*1228del NP_001338428.1:n.*1195_*1228del
NM_001351500.2:c.*1195_*1228del NP_001338429.1:n.*1195_*1228del
NM_001351501.2:c.*1195_*1228del NP_001338430.1:n.*1195_*1228del
NM_001351502.2:c.*1195_*1228del NP_001338431.1:n.*1195_*1228del
NR_147213.2:n.2704_2737del
NR_147214.2:n.2876_2909del