Canonical Allele Identifier: CA645516892
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs2109776717
COSMIC: COSM1283

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727474_54727495delinsG , CM000666.2:g.54727474_54727495delinsG GRCh38
NC_000004.11:g.55593640_55593661delinsG , CM000666.1:g.55593640_55593661delinsG GRCh37
NC_000004.10:g.55288397_55288418delinsG NCBI36
NG_007456.1:g.74480_74501delinsG , LRG_307:g.74480_74501delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1697_1718delinsG ENSP00000390987.3:p.Val566_Leu573delinsGly
ENST00000685269.1:n.1784_1805delinsG
ENST00000686011.1:c.1694_1715delinsG ENSP00000509704.1:p.Val565_Leu572delinsGly
ENST00000687109.1:c.1709_1730delinsG ENSP00000509371.1:p.Val570_Leu577delinsGly
ENST00000687208.1:n.2121_2142delinsG
ENST00000687246.1:c.1694_1715delinsG ENSP00000509114.1:p.Val565_Leu572delinsGly
ENST00000687265.1:n.1864_1885delinsG
ENST00000687295.1:c.1694_1715delinsG ENSP00000509450.1:p.Val565_Leu572delinsGly
ENST00000689832.1:c.1709_1730delinsG ENSP00000509084.1:p.Val570_Leu577delinsGly
ENST00000689994.1:c.1196_1217delinsG ENSP00000509156.1:p.Val399_Leu406delinsGly
ENST00000690543.1:c.1697_1718delinsG ENSP00000508831.1:p.Val566_Leu573delinsGly
ENST00000690917.1:n.1924_1945delinsG
ENST00000691361.1:n.616_637delinsG
ENST00000692783.1:c.1706_1727delinsG ENSP00000508733.1:p.Val569_Leu576delinsGly
ENST00000692991.1:n.1803_1824delinsG
ENST00000288135.6:c.1706_1727delinsG MANE Select ENSP00000288135.6:p.Val569_Leu576delinsGly
ENST00000288135.5:c.1706_1727delinsG ENSP00000288135.5:p.Val569_Leu576delinsGly
ENST00000412167.6:c.1694_1715delinsG ENSP00000390987.2:p.Val565_Leu572delinsGly
NM_000222.2:c.1706_1727delinsG , LRG_307t1:c.1706_1727delinsG NP_000213.1:p.Val569_Leu576delinsGly
NM_001093772.1:c.1694_1715delinsG NP_001087241.1:p.Val565_Leu572delinsGly
XM_005265740.1:c.1709_1730delinsG XP_005265797.1:p.Val570_Leu577delinsGly
XM_005265741.1:c.1709_1730delinsG XP_005265798.1:p.Val570_Leu577delinsGly
XM_005265742.1:c.1697_1718delinsG XP_005265799.1:p.Val566_Leu573delinsGly
XM_005265742.3:c.1697_1718delinsG XP_005265799.1:p.Val566_Leu573delinsGly
XM_017008178.1:c.1706_1727delinsG XP_016863667.1:p.Val569_Leu576delinsGly
XM_017008179.1:c.1697_1718delinsG XP_016863668.1:p.Val566_Leu573delinsGly
XM_017008180.1:c.1694_1715delinsG XP_016863669.1:p.Val565_Leu572delinsGly
NM_000222.3:c.1706_1727delinsG MANE Select NP_000213.1:p.Val569_Leu576delinsGly
NM_001093772.2:c.1694_1715delinsG NP_001087241.1:p.Val565_Leu572delinsGly
NM_001385284.1:c.1709_1730delinsG NP_001372213.1:p.Val570_Leu577delinsGly
NM_001385285.1:c.1706_1727delinsG NP_001372214.1:p.Val569_Leu576delinsGly
NM_001385286.1:c.1694_1715delinsG NP_001372215.1:p.Val565_Leu572delinsGly
NM_001385288.1:c.1697_1718delinsG NP_001372217.1:p.Val566_Leu573delinsGly
NM_001385290.1:c.1709_1730delinsG NP_001372219.1:p.Val570_Leu577delinsGly
NM_001385292.1:c.1697_1718delinsG NP_001372221.1:p.Val566_Leu573delinsGly