Canonical Allele Identifier: CA645516776
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM36291

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727430_54727483del , CM000666.2:g.54727430_54727483del GRCh38
NC_000004.11:g.55593596_55593649del , CM000666.1:g.55593596_55593649del GRCh37
NC_000004.10:g.55288353_55288406del NCBI36
NG_007456.1:g.74436_74489del , LRG_307:g.74436_74489del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1653_1706del ENSP00000390987.3:p.Glu551_Ile568del
ENST00000685269.1:n.1740_1793del
ENST00000686011.1:c.1650_1703del ENSP00000509704.1:p.Glu550_Ile567del
ENST00000687109.1:c.1665_1718del ENSP00000509371.1:p.Glu555_Ile572del
ENST00000687208.1:n.2077_2130del
ENST00000687246.1:c.1650_1703del ENSP00000509114.1:p.Glu550_Ile567del
ENST00000687265.1:n.1820_1873del
ENST00000687295.1:c.1650_1703del ENSP00000509450.1:p.Glu550_Ile567del
ENST00000689832.1:c.1665_1718del ENSP00000509084.1:p.Glu555_Ile572del
ENST00000689994.1:c.1152_1205del ENSP00000509156.1:p.Glu384_Ile401del
ENST00000690543.1:c.1653_1706del ENSP00000508831.1:p.Glu551_Ile568del
ENST00000690917.1:n.1880_1933del
ENST00000691361.1:n.572_625del
ENST00000692783.1:c.1662_1715del ENSP00000508733.1:p.Glu554_Ile571del
ENST00000692991.1:n.1759_1812del
ENST00000288135.6:c.1662_1715del MANE Select ENSP00000288135.6:p.Glu554_Ile571del
ENST00000288135.5:c.1662_1715del ENSP00000288135.5:p.Glu554_Ile571del
ENST00000412167.6:c.1650_1703del ENSP00000390987.2:p.Glu550_Ile567del
NM_000222.2:c.1662_1715del , LRG_307t1:c.1662_1715del NP_000213.1:p.Glu554_Ile571del
NM_001093772.1:c.1650_1703del NP_001087241.1:p.Glu550_Ile567del
XM_005265740.1:c.1665_1718del XP_005265797.1:p.Glu555_Ile572del
XM_005265741.1:c.1665_1718del XP_005265798.1:p.Glu555_Ile572del
XM_005265742.1:c.1653_1706del XP_005265799.1:p.Glu551_Ile568del
XM_005265742.3:c.1653_1706del XP_005265799.1:p.Glu551_Ile568del
XM_017008178.1:c.1662_1715del XP_016863667.1:p.Glu554_Ile571del
XM_017008179.1:c.1653_1706del XP_016863668.1:p.Glu551_Ile568del
XM_017008180.1:c.1650_1703del XP_016863669.1:p.Glu550_Ile567del
NM_000222.3:c.1662_1715del MANE Select NP_000213.1:p.Glu554_Ile571del
NM_001093772.2:c.1650_1703del NP_001087241.1:p.Glu550_Ile567del
NM_001385284.1:c.1665_1718del NP_001372213.1:p.Glu555_Ile572del
NM_001385285.1:c.1662_1715del NP_001372214.1:p.Glu554_Ile571del
NM_001385286.1:c.1650_1703del NP_001372215.1:p.Glu550_Ile567del
NM_001385288.1:c.1653_1706del NP_001372217.1:p.Glu551_Ile568del
NM_001385290.1:c.1665_1718del NP_001372219.1:p.Glu555_Ile572del
NM_001385292.1:c.1653_1706del NP_001372221.1:p.Glu551_Ile568del