Canonical Allele Identifier: CA1127730024

Gene: FKTN

Linked Data

• dbSNP Id: rs1834016010
• gnomAD v3: 9-105636105-TCAGA-T
• gnomAD v4: 9-105636105-TCAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105636109_105636112del , CM000671.2:g.105636109_105636112del	GRCh38
NC_000009.11:g.108398390_108398393del , CM000671.1:g.108398390_108398393del	GRCh37
NC_000009.10:g.107438211_107438214del	NCBI36
NG_008754.1:g.82980_82983del , LRG_434:g.82980_82983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357998.10:c.*845_*848del MANE Select	ENSP00000350687.6:n.*845_*848del
ENST00000602661.6:c.*1839_*1842del	ENSP00000473540.2:n.*1839_*1842del
ENST00000642177.1:c.*486-564_*486-561del	ENSP00000495864.1:n.*486-564_*486-561del
ENST00000642537.1:c.*1539-564_*1539-561del	ENSP00000495945.1:n.*1539-564_*1539-561del
ENST00000642952.1:c.1610+961_1610+964del	ENSP00000493886.1:n.1610+961_1610+964del
ENST00000644273.1:c.553+961_553+964del
ENST00000645933.1:c.*1584-564_*1584-561del	ENSP00000495852.1:n.*1584-564_*1584-561del
ENST00000674563.1:c.*1212_*1215del	ENSP00000502153.1:n.*1212_*1215del
ENST00000674633.1:c.1270+961_1270+964del	ENSP00000502164.1:n.1270+961_1270+964del
ENST00000675695.1:c.*1212_*1215del	ENSP00000502460.1:n.*1212_*1215del
ENST00000675736.1:c.*2011_*2014del	ENSP00000502809.1:n.*2011_*2014del
ENST00000676011.1:n.3595_3598del
ENST00000676310.1:c.1270+961_1270+964del	ENSP00000501585.1:n.1270+961_1270+964del
ENST00000223528.6:c.*845_*848del	ENSP00000223528.2:n.*845_*848del
ENST00000357998.9:c.1270+961_1270+964del	ENSP00000350687.5:n.1270+961_1270+964del
ENST00000448551.6:c.1270+961_1270+964del	ENSP00000399140.2:n.1270+961_1270+964del
ENST00000457847.1:c.361-564_361-561del
ENST00000602526.1:c.*2269_*2272del	ENSP00000473347.1:n.*2269_*2272del
ENST00000602661.5:c.*845_*848del	ENSP00000473540.1:n.*845_*848del
NM_001079802.1:c.*845_*848del , LRG_434t1:c.*845_*848del	NP_001073270.1:n.*845_*848del
NM_001198963.1:c.1270+961_1270+964del	NP_001185892.1:n.1270+961_1270+964del
NM_006731.2:c.*845_*848del , LRG_434t2:c.*845_*848del	NP_006722.2:n.*845_*848del
XM_006717014.2:c.*1023_*1026del	XP_006717077.1:n.*1023_*1026del
NM_001351496.1:c.*845_*848del	NP_001338425.1:n.*845_*848del
NM_001351497.1:c.*845_*848del	NP_001338426.1:n.*845_*848del
NM_001351498.1:c.*1023_*1026del	NP_001338427.1:n.*1023_*1026del
NM_001351499.1:c.*845_*848del	NP_001338428.1:n.*845_*848del
NM_001351500.1:c.*845_*848del	NP_001338429.1:n.*845_*848del
NM_001351501.1:c.*845_*848del	NP_001338430.1:n.*845_*848del
NM_001351502.1:c.*845_*848del	NP_001338431.1:n.*845_*848del
NR_147213.1:n.2355_2358del
NR_147214.1:n.2527_2530del
XM_011518391.2:c.*1023_*1026del	XP_011516693.1:n.*1023_*1026del
XM_017014464.1:c.1270+961_1270+964del	XP_016869953.1:n.1270+961_1270+964del
XM_017014465.1:c.1270+961_1270+964del	XP_016869954.1:n.1270+961_1270+964del
XM_017014467.1:c.*845_*848del	XP_016869956.1:n.*845_*848del
XM_017014468.1:c.*845_*848del	XP_016869957.1:n.*845_*848del
XM_017014469.1:c.1270+961_1270+964del	XP_016869958.1:n.1270+961_1270+964del
XM_017014470.1:c.1270+961_1270+964del	XP_016869959.1:n.1270+961_1270+964del
XR_001746242.2:n.1837+961_1837+964del
XR_001746244.2:n.1665+961_1665+964del
XR_001746245.1:n.2617_2620del
XR_001746248.1:n.3710_3713del
XR_002956770.1:n.2473_2476del
NM_001079802.2:c.*845_*848del MANE Select	NP_001073270.1:n.*845_*848del
NM_001198963.2:c.1270+961_1270+964del	NP_001185892.1:n.1270+961_1270+964del
NM_001351496.2:c.*845_*848del	NP_001338425.1:n.*845_*848del
NM_001351497.2:c.*845_*848del	NP_001338426.1:n.*845_*848del
NM_001351498.2:c.*1023_*1026del	NP_001338427.1:n.*1023_*1026del
NM_001351499.2:c.*845_*848del	NP_001338428.1:n.*845_*848del
NM_001351500.2:c.*845_*848del	NP_001338429.1:n.*845_*848del
NM_001351501.2:c.*845_*848del	NP_001338430.1:n.*845_*848del
NM_001351502.2:c.*845_*848del	NP_001338431.1:n.*845_*848del
NR_147213.2:n.2354_2357del
NR_147214.2:n.2526_2529del