Canonical Allele Identifier: CA645516902
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM30595

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727482_54727523dup , CM000666.2:g.54727482_54727523dup GRCh38
NC_000004.11:g.55593648_55593689dup , CM000666.1:g.55593648_55593689dup GRCh37
NC_000004.10:g.55288405_55288446dup NCBI36
NG_007456.1:g.74488_74529dup , LRG_307:g.74488_74529dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1705_1746dup ENSP00000390987.3:p.Pro582_Arg583insAspProThrGlnLeuProTyrAspH...
ENST00000685269.1:n.1792_1833dup
ENST00000686011.1:c.1702_1743dup ENSP00000509704.1:p.Pro581_Arg582insAspProThrGlnLeuProTyrAspH...
ENST00000687109.1:c.1717_1758dup ENSP00000509371.1:p.Pro586_Arg587insAspProThrGlnLeuProTyrAspH...
ENST00000687208.1:n.2129_2170dup
ENST00000687246.1:c.1702_1743dup ENSP00000509114.1:p.Pro581_Arg582insAspProThrGlnLeuProTyrAspH...
ENST00000687265.1:n.1872_1913dup
ENST00000687295.1:c.1702_1743dup ENSP00000509450.1:p.Pro581_Arg582insAspProThrGlnLeuProTyrAspH...
ENST00000689832.1:c.1717_1758dup ENSP00000509084.1:p.Pro586_Arg587insAspProThrGlnLeuProTyrAspH...
ENST00000689994.1:c.1204_1245dup ENSP00000509156.1:p.Pro415_Arg416insAspProThrGlnLeuProTyrAspH...
ENST00000690543.1:c.1705_1746dup ENSP00000508831.1:p.Pro582_Arg583insAspProThrGlnLeuProTyrAspH...
ENST00000690917.1:n.1932_1973dup
ENST00000691361.1:n.624_665dup
ENST00000692783.1:c.1714_1755dup ENSP00000508733.1:p.Pro585_Arg586insAspProThrGlnLeuProTyrAspH...
ENST00000692991.1:n.1811_1852dup
ENST00000288135.6:c.1714_1755dup MANE Select ENSP00000288135.6:p.Pro585_Arg586insAspProThrGlnLeuProTyrAspH...
ENST00000288135.5:c.1714_1755dup ENSP00000288135.5:p.Pro585_Arg586insAspProThrGlnLeuProTyrAspH...
ENST00000412167.6:c.1702_1743dup ENSP00000390987.2:p.Pro581_Arg582insAspProThrGlnLeuProTyrAspH...
NM_000222.2:c.1714_1755dup , LRG_307t1:c.1714_1755dup NP_000213.1:p.Pro585_Arg586insAspProThrGlnLeuProTyrAspHisLysT...
NM_001093772.1:c.1702_1743dup NP_001087241.1:p.Pro581_Arg582insAspProThrGlnLeuProTyrAspHisL...
XM_005265740.1:c.1717_1758dup XP_005265797.1:p.Pro586_Arg587insAspProThrGlnLeuProTyrAspHisL...
XM_005265741.1:c.1717_1758dup XP_005265798.1:p.Pro586_Arg587insAspProThrGlnLeuProTyrAspHisL...
XM_005265742.1:c.1705_1746dup XP_005265799.1:p.Pro582_Arg583insAspProThrGlnLeuProTyrAspHisL...
XM_005265742.3:c.1705_1746dup XP_005265799.1:p.Pro582_Arg583insAspProThrGlnLeuProTyrAspHisL...
XM_017008178.1:c.1714_1755dup XP_016863667.1:p.Pro585_Arg586insAspProThrGlnLeuProTyrAspHisL...
XM_017008179.1:c.1705_1746dup XP_016863668.1:p.Pro582_Arg583insAspProThrGlnLeuProTyrAspHisL...
XM_017008180.1:c.1702_1743dup XP_016863669.1:p.Pro581_Arg582insAspProThrGlnLeuProTyrAspHisL...
NM_000222.3:c.1714_1755dup MANE Select NP_000213.1:p.Pro585_Arg586insAspProThrGlnLeuProTyrAspHisLysT...
NM_001093772.2:c.1702_1743dup NP_001087241.1:p.Pro581_Arg582insAspProThrGlnLeuProTyrAspHisL...
NM_001385284.1:c.1717_1758dup NP_001372213.1:p.Pro586_Arg587insAspProThrGlnLeuProTyrAspHisL...
NM_001385285.1:c.1714_1755dup NP_001372214.1:p.Pro585_Arg586insAspProThrGlnLeuProTyrAspHisL...
NM_001385286.1:c.1702_1743dup NP_001372215.1:p.Pro581_Arg582insAspProThrGlnLeuProTyrAspHisL...
NM_001385288.1:c.1705_1746dup NP_001372217.1:p.Pro582_Arg583insAspProThrGlnLeuProTyrAspHisL...
NM_001385290.1:c.1717_1758dup NP_001372219.1:p.Pro586_Arg587insAspProThrGlnLeuProTyrAspHisL...
NM_001385292.1:c.1705_1746dup NP_001372221.1:p.Pro582_Arg583insAspProThrGlnLeuProTyrAspHisL...