Canonical Allele Identifier: CA645516901
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM1301

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727482_54727532dup , CM000666.2:g.54727482_54727532dup GRCh38
NC_000004.11:g.55593648_55593698dup , CM000666.1:g.55593648_55593698dup GRCh37
NC_000004.10:g.55288405_55288455dup NCBI36
NG_007456.1:g.74488_74538dup , LRG_307:g.74488_74538dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1705_1755dup ENSP00000390987.3:p.Arg585_Leu586insAspProThrGlnLeuProTyrAspH...
ENST00000685269.1:n.1792_1842dup
ENST00000686011.1:c.1702_1752dup ENSP00000509704.1:p.Arg584_Leu585insAspProThrGlnLeuProTyrAspH...
ENST00000687109.1:c.1717_1767dup ENSP00000509371.1:p.Arg589_Leu590insAspProThrGlnLeuProTyrAspH...
ENST00000687208.1:n.2129_2179dup
ENST00000687246.1:c.1702_1752dup ENSP00000509114.1:p.Arg584_Leu585insAspProThrGlnLeuProTyrAspH...
ENST00000687265.1:n.1872_1922dup
ENST00000687295.1:c.1702_1752dup ENSP00000509450.1:p.Arg584_Leu585insAspProThrGlnLeuProTyrAspH...
ENST00000689832.1:c.1717_1767dup ENSP00000509084.1:p.Arg589_Leu590insAspProThrGlnLeuProTyrAspH...
ENST00000689994.1:c.1204_1254dup ENSP00000509156.1:p.Arg418_Leu419insAspProThrGlnLeuProTyrAspH...
ENST00000690543.1:c.1705_1755dup ENSP00000508831.1:p.Arg585_Leu586insAspProThrGlnLeuProTyrAspH...
ENST00000690917.1:n.1932_1982dup
ENST00000691361.1:n.624_674dup
ENST00000692783.1:c.1714_1764dup ENSP00000508733.1:p.Arg588_Leu589insAspProThrGlnLeuProTyrAspH...
ENST00000692991.1:n.1811_1861dup
ENST00000288135.6:c.1714_1764dup MANE Select ENSP00000288135.6:p.Arg588_Leu589insAspProThrGlnLeuProTyrAspH...
ENST00000288135.5:c.1714_1764dup ENSP00000288135.5:p.Arg588_Leu589insAspProThrGlnLeuProTyrAspH...
ENST00000412167.6:c.1702_1752dup ENSP00000390987.2:p.Arg584_Leu585insAspProThrGlnLeuProTyrAspH...
NM_000222.2:c.1714_1764dup , LRG_307t1:c.1714_1764dup NP_000213.1:p.Arg588_Leu589insAspProThrGlnLeuProTyrAspHisLysT...
NM_001093772.1:c.1702_1752dup NP_001087241.1:p.Arg584_Leu585insAspProThrGlnLeuProTyrAspHisL...
XM_005265740.1:c.1717_1767dup XP_005265797.1:p.Arg589_Leu590insAspProThrGlnLeuProTyrAspHisL...
XM_005265741.1:c.1717_1767dup XP_005265798.1:p.Arg589_Leu590insAspProThrGlnLeuProTyrAspHisL...
XM_005265742.1:c.1705_1755dup XP_005265799.1:p.Arg585_Leu586insAspProThrGlnLeuProTyrAspHisL...
XM_005265742.3:c.1705_1755dup XP_005265799.1:p.Arg585_Leu586insAspProThrGlnLeuProTyrAspHisL...
XM_017008178.1:c.1714_1764dup XP_016863667.1:p.Arg588_Leu589insAspProThrGlnLeuProTyrAspHisL...
XM_017008179.1:c.1705_1755dup XP_016863668.1:p.Arg585_Leu586insAspProThrGlnLeuProTyrAspHisL...
XM_017008180.1:c.1702_1752dup XP_016863669.1:p.Arg584_Leu585insAspProThrGlnLeuProTyrAspHisL...
NM_000222.3:c.1714_1764dup MANE Select NP_000213.1:p.Arg588_Leu589insAspProThrGlnLeuProTyrAspHisLysT...
NM_001093772.2:c.1702_1752dup NP_001087241.1:p.Arg584_Leu585insAspProThrGlnLeuProTyrAspHisL...
NM_001385284.1:c.1717_1767dup NP_001372213.1:p.Arg589_Leu590insAspProThrGlnLeuProTyrAspHisL...
NM_001385285.1:c.1714_1764dup NP_001372214.1:p.Arg588_Leu589insAspProThrGlnLeuProTyrAspHisL...
NM_001385286.1:c.1702_1752dup NP_001372215.1:p.Arg584_Leu585insAspProThrGlnLeuProTyrAspHisL...
NM_001385288.1:c.1705_1755dup NP_001372217.1:p.Arg585_Leu586insAspProThrGlnLeuProTyrAspHisL...
NM_001385290.1:c.1717_1767dup NP_001372219.1:p.Arg589_Leu590insAspProThrGlnLeuProTyrAspHisL...
NM_001385292.1:c.1705_1755dup NP_001372221.1:p.Arg585_Leu586insAspProThrGlnLeuProTyrAspHisL...