Canonical Allele Identifier: CA590046706

Gene: FKTN

Linked Data

• ClinVar Variation Id: 859652
• ClinVar RCV Id: RCV001065816 ; RCV002479389
• dbSNP Id: rs1176794033
• gnomAD v2: 9-108366524-TGGGATTTCA-T
• MyVariant Identifiers: chr9:g.108366525_108366533del (hg19) ; chr9:g.105604244_105604252del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.105604245_105604253del , CM000671.2:g.105604245_105604253del	GRCh38
NC_000009.11:g.108366526_108366534del , CM000671.1:g.108366526_108366534del	GRCh37
NC_000009.10:g.107406347_107406355del	NCBI36
NG_008754.1:g.51116_51124del , LRG_434:g.51116_51124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357998.10:c.400_408del MANE Select	ENSP00000350687.6:p.Gly134_Gln136del
ENST00000374705.5:c.411_419del	ENSP00000363837.5:n.411_419del
ENST00000602661.6:c.*8_*16del	ENSP00000473540.2:n.*8_*16del
ENST00000642177.1:c.400_408del	ENSP00000495864.1:p.Gly134_Gln136del
ENST00000642537.1:c.*262_*270del	ENSP00000495945.1:n.*262_*270del
ENST00000642644.1:c.*523_*531del	ENSP00000494674.1:n.*523_*531del
ENST00000642952.1:c.425_433del	ENSP00000493886.1:n.425_433del
ENST00000645933.1:c.*398_*406del	ENSP00000495852.1:n.*398_*406del
ENST00000674563.1:c.400_408del	ENSP00000502153.1:p.Gly134_Gln136del
ENST00000674633.1:c.400_408del	ENSP00000502164.1:p.Gly134_Gln136del
ENST00000675232.1:c.*535_*543del	ENSP00000502043.1:n.*535_*543del
ENST00000675443.1:c.*8_*16del	ENSP00000502643.1:n.*8_*16del
ENST00000675668.1:c.400_408del	ENSP00000502113.1:p.Gly134_Gln136del
ENST00000675695.1:c.400_408del	ENSP00000502460.1:p.Gly134_Gln136del
ENST00000675736.1:c.*8_*16del	ENSP00000502809.1:n.*8_*16del
ENST00000676011.1:n.1567_1575del
ENST00000676192.1:c.*320_*328del	ENSP00000502158.1:n.*320_*328del
ENST00000676310.1:c.400_408del	ENSP00000501585.1:p.Gly134_Gln136del
ENST00000676371.1:c.*207_*215del	ENSP00000501556.1:n.*207_*215del
ENST00000223528.6:c.400_408del	ENSP00000223528.2:p.Gly134_Gln136del
ENST00000357998.9:c.400_408del	ENSP00000350687.5:p.Gly134_Gln136del
ENST00000374705.4:c.331_339del	ENSP00000363837.4:p.Gly111_Gln113del
ENST00000448551.6:c.400_408del	ENSP00000399140.2:p.Gly134_Gln136del
ENST00000602526.1:c.*438_*446del	ENSP00000473347.1:n.*438_*446del
ENST00000602661.5:c.400_408del	ENSP00000473540.1:p.Gly134_Gln136del
NM_001079802.1:c.400_408del , LRG_434t1:c.400_408del	NP_001073270.1:p.Gly134_Gln136del
NM_001198963.1:c.400_408del	NP_001185892.1:p.Gly134_Gln136del
NM_006731.2:c.400_408del , LRG_434t2:c.400_408del	NP_006722.2:p.Gly134_Gln136del
XM_006717014.2:c.400_408del	XP_006717077.1:p.Gly134_Gln136del
XM_011518368.1:c.400_408del	XP_011516670.1:p.Gly134_Gln136del
XM_011518369.1:c.400_408del	XP_011516671.1:p.Gly134_Gln136del
XM_011518370.1:c.400_408del	XP_011516672.1:p.Gly134_Gln136del
XM_011518371.1:c.400_408del	XP_011516673.1:p.Gly134_Gln136del
XM_011518372.1:c.400_408del	XP_011516674.1:p.Gly134_Gln136del
XM_011518373.1:c.400_408del	XP_011516675.1:p.Gly134_Gln136del
XM_011518374.1:c.400_408del	XP_011516676.1:p.Gly134_Gln136del
XM_011518375.1:c.400_408del	XP_011516677.1:p.Gly134_Gln136del
XM_011518376.1:c.400_408del	XP_011516678.1:p.Gly134_Gln136del
XM_011518377.1:c.400_408del	XP_011516679.1:p.Gly134_Gln136del
XM_011518378.1:c.400_408del	XP_011516680.1:p.Gly134_Gln136del
XM_011518379.1:c.331_339del	XP_011516681.1:p.Gly111_Gln113del
XM_011518380.1:c.400_408del	XP_011516682.1:p.Gly134_Gln136del
XM_011518381.1:c.214_222del	XP_011516683.1:p.Gly72_Gln74del
XM_011518382.1:c.214_222del	XP_011516684.1:p.Gly72_Gln74del
XM_011518383.1:c.214_222del	XP_011516685.1:p.Gly72_Gln74del
XM_011518384.1:c.214_222del	XP_011516686.1:p.Gly72_Gln74del
XM_011518385.1:c.214_222del	XP_011516687.1:p.Gly72_Gln74del
XM_011518386.1:c.400_408del	XP_011516688.1:p.Gly134_Gln136del
XM_011518387.1:c.400_408del	XP_011516689.1:p.Gly134_Gln136del
XM_011518388.1:c.400_408del	XP_011516690.1:p.Gly134_Gln136del
XM_011518389.1:c.400_408del	XP_011516691.1:p.Gly134_Gln136del
XM_011518390.1:c.4_12del	XP_011516692.1:p.Gly2_Gln4del
XM_011518391.1:c.400_408del	XP_011516693.1:p.Gly134_Gln136del
NM_001351496.1:c.400_408del	NP_001338425.1:p.Gly134_Gln136del
NM_001351497.1:c.331_339del	NP_001338426.1:p.Gly111_Gln113del
NM_001351498.1:c.400_408del	NP_001338427.1:p.Gly134_Gln136del
NM_001351499.1:c.4_12del	NP_001338428.1:p.Gly2_Gln4del
NM_001351500.1:c.4_12del	NP_001338429.1:p.Gly2_Gln4del
NM_001351501.1:c.4_12del	NP_001338430.1:p.Gly2_Gln4del
NM_001351502.1:c.4_12del	NP_001338431.1:p.Gly2_Gln4del
NR_147213.1:n.616_624del
NR_147214.1:n.524_532del
XM_011518368.2:c.400_408del	XP_011516670.1:p.Gly134_Gln136del
XM_011518369.2:c.400_408del	XP_011516671.1:p.Gly134_Gln136del
XM_011518370.2:c.400_408del	XP_011516672.1:p.Gly134_Gln136del
XM_011518371.2:c.400_408del	XP_011516673.1:p.Gly134_Gln136del
XM_011518373.2:c.400_408del	XP_011516675.1:p.Gly134_Gln136del
XM_011518374.2:c.400_408del	XP_011516676.1:p.Gly134_Gln136del
XM_011518375.2:c.400_408del	XP_011516677.1:p.Gly134_Gln136del
XM_011518376.2:c.400_408del	XP_011516678.1:p.Gly134_Gln136del
XM_011518378.2:c.400_408del	XP_011516680.1:p.Gly134_Gln136del
XM_011518379.2:c.331_339del	XP_011516681.1:p.Gly111_Gln113del
XM_011518381.3:c.214_222del	XP_011516683.1:p.Gly72_Gln74del
XM_011518387.2:c.400_408del	XP_011516689.1:p.Gly134_Gln136del
XM_011518390.2:c.4_12del	XP_011516692.1:p.Gly2_Gln4del
XM_011518391.2:c.400_408del	XP_011516693.1:p.Gly134_Gln136del
XM_017014462.1:c.400_408del	XP_016869951.1:p.Gly134_Gln136del
XM_017014463.1:c.400_408del	XP_016869952.1:p.Gly134_Gln136del
XM_017014464.1:c.400_408del	XP_016869953.1:p.Gly134_Gln136del
XM_017014465.1:c.400_408del	XP_016869954.1:p.Gly134_Gln136del
XM_017014467.1:c.400_408del	XP_016869956.1:p.Gly134_Gln136del
XM_017014468.1:c.400_408del	XP_016869957.1:p.Gly134_Gln136del
XM_017014469.1:c.400_408del	XP_016869958.1:p.Gly134_Gln136del
XM_017014470.1:c.400_408del	XP_016869959.1:p.Gly134_Gln136del
XM_017014472.2:c.214_222del	XP_016869961.1:p.Gly72_Gln74del
XM_017014473.2:c.214_222del	XP_016869962.1:p.Gly72_Gln74del
XM_017014475.1:c.400_408del	XP_016869964.1:p.Gly134_Gln136del
XR_001746242.2:n.764_772del
XR_001746243.2:n.764_772del
XR_001746244.2:n.764_772del
XR_001746245.1:n.614_622del
XR_001746248.1:n.1707_1715del
XR_002956770.1:n.614_622del
NM_001079802.2:c.400_408del MANE Select	NP_001073270.1:p.Gly134_Gln136del
NM_001198963.2:c.400_408del	NP_001185892.1:p.Gly134_Gln136del
NM_001351496.2:c.400_408del	NP_001338425.1:p.Gly134_Gln136del
NM_001351497.2:c.331_339del	NP_001338426.1:p.Gly111_Gln113del
NM_001351498.2:c.400_408del	NP_001338427.1:p.Gly134_Gln136del
NM_001351499.2:c.4_12del	NP_001338428.1:p.Gly2_Gln4del
NM_001351500.2:c.4_12del	NP_001338429.1:p.Gly2_Gln4del
NM_001351501.2:c.4_12del	NP_001338430.1:p.Gly2_Gln4del
NM_001351502.2:c.4_12del	NP_001338431.1:p.Gly2_Gln4del
NR_147213.2:n.615_623del
NR_147214.2:n.523_531del