Canonical Allele Identifier: CA645516906
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM36322

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727485_54727523dup , CM000666.2:g.54727485_54727523dup GRCh38
NC_000004.11:g.55593651_55593689dup , CM000666.1:g.55593651_55593689dup GRCh37
NC_000004.10:g.55288408_55288446dup NCBI36
NG_007456.1:g.74491_74529dup , LRG_307:g.74491_74529dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1708_1746dup ENSP00000390987.3:p.Pro582_Arg583insProThrGlnLeuProTyrAspHisL...
ENST00000685269.1:n.1795_1833dup
ENST00000686011.1:c.1705_1743dup ENSP00000509704.1:p.Pro581_Arg582insProThrGlnLeuProTyrAspHisL...
ENST00000687109.1:c.1720_1758dup ENSP00000509371.1:p.Pro586_Arg587insProThrGlnLeuProTyrAspHisL...
ENST00000687208.1:n.2132_2170dup
ENST00000687246.1:c.1705_1743dup ENSP00000509114.1:p.Pro581_Arg582insProThrGlnLeuProTyrAspHisL...
ENST00000687265.1:n.1875_1913dup
ENST00000687295.1:c.1705_1743dup ENSP00000509450.1:p.Pro581_Arg582insProThrGlnLeuProTyrAspHisL...
ENST00000689832.1:c.1720_1758dup ENSP00000509084.1:p.Pro586_Arg587insProThrGlnLeuProTyrAspHisL...
ENST00000689994.1:c.1207_1245dup ENSP00000509156.1:p.Pro415_Arg416insProThrGlnLeuProTyrAspHisL...
ENST00000690543.1:c.1708_1746dup ENSP00000508831.1:p.Pro582_Arg583insProThrGlnLeuProTyrAspHisL...
ENST00000690917.1:n.1935_1973dup
ENST00000691361.1:n.627_665dup
ENST00000692783.1:c.1717_1755dup ENSP00000508733.1:p.Pro585_Arg586insProThrGlnLeuProTyrAspHisL...
ENST00000692991.1:n.1814_1852dup
ENST00000288135.6:c.1717_1755dup MANE Select ENSP00000288135.6:p.Pro585_Arg586insProThrGlnLeuProTyrAspHisL...
ENST00000288135.5:c.1717_1755dup ENSP00000288135.5:p.Pro585_Arg586insProThrGlnLeuProTyrAspHisL...
ENST00000412167.6:c.1705_1743dup ENSP00000390987.2:p.Pro581_Arg582insProThrGlnLeuProTyrAspHisL...
NM_000222.2:c.1717_1755dup , LRG_307t1:c.1717_1755dup NP_000213.1:p.Pro585_Arg586insProThrGlnLeuProTyrAspHisLysTrpG...
NM_001093772.1:c.1705_1743dup NP_001087241.1:p.Pro581_Arg582insProThrGlnLeuProTyrAspHisLysT...
XM_005265740.1:c.1720_1758dup XP_005265797.1:p.Pro586_Arg587insProThrGlnLeuProTyrAspHisLysT...
XM_005265741.1:c.1720_1758dup XP_005265798.1:p.Pro586_Arg587insProThrGlnLeuProTyrAspHisLysT...
XM_005265742.1:c.1708_1746dup XP_005265799.1:p.Pro582_Arg583insProThrGlnLeuProTyrAspHisLysT...
XM_005265742.3:c.1708_1746dup XP_005265799.1:p.Pro582_Arg583insProThrGlnLeuProTyrAspHisLysT...
XM_017008178.1:c.1717_1755dup XP_016863667.1:p.Pro585_Arg586insProThrGlnLeuProTyrAspHisLysT...
XM_017008179.1:c.1708_1746dup XP_016863668.1:p.Pro582_Arg583insProThrGlnLeuProTyrAspHisLysT...
XM_017008180.1:c.1705_1743dup XP_016863669.1:p.Pro581_Arg582insProThrGlnLeuProTyrAspHisLysT...
NM_000222.3:c.1717_1755dup MANE Select NP_000213.1:p.Pro585_Arg586insProThrGlnLeuProTyrAspHisLysTrpG...
NM_001093772.2:c.1705_1743dup NP_001087241.1:p.Pro581_Arg582insProThrGlnLeuProTyrAspHisLysT...
NM_001385284.1:c.1720_1758dup NP_001372213.1:p.Pro586_Arg587insProThrGlnLeuProTyrAspHisLysT...
NM_001385285.1:c.1717_1755dup NP_001372214.1:p.Pro585_Arg586insProThrGlnLeuProTyrAspHisLysT...
NM_001385286.1:c.1705_1743dup NP_001372215.1:p.Pro581_Arg582insProThrGlnLeuProTyrAspHisLysT...
NM_001385288.1:c.1708_1746dup NP_001372217.1:p.Pro582_Arg583insProThrGlnLeuProTyrAspHisLysT...
NM_001385290.1:c.1720_1758dup NP_001372219.1:p.Pro586_Arg587insProThrGlnLeuProTyrAspHisLysT...
NM_001385292.1:c.1708_1746dup NP_001372221.1:p.Pro582_Arg583insProThrGlnLeuProTyrAspHisLysT...