Canonical Allele Identifier: CA645516922
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs2109777037
COSMIC: COSM1296

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727496_54727507dup , CM000666.2:g.54727496_54727507dup GRCh38
NC_000004.11:g.55593662_55593673dup , CM000666.1:g.55593662_55593673dup GRCh37
NC_000004.10:g.55288419_55288430dup NCBI36
NG_007456.1:g.74502_74513dup , LRG_307:g.74502_74513dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1719_1730dup ENSP00000390987.3:p.His577_Lys578insProTyrAspHis
ENST00000685269.1:n.1806_1817dup
ENST00000686011.1:c.1716_1727dup ENSP00000509704.1:p.His576_Lys577insProTyrAspHis
ENST00000687109.1:c.1731_1742dup ENSP00000509371.1:p.His581_Lys582insProTyrAspHis
ENST00000687208.1:n.2143_2154dup
ENST00000687246.1:c.1716_1727dup ENSP00000509114.1:p.His576_Lys577insProTyrAspHis
ENST00000687265.1:n.1886_1897dup
ENST00000687295.1:c.1716_1727dup ENSP00000509450.1:p.His576_Lys577insProTyrAspHis
ENST00000689832.1:c.1731_1742dup ENSP00000509084.1:p.His581_Lys582insProTyrAspHis
ENST00000689994.1:c.1218_1229dup ENSP00000509156.1:p.His410_Lys411insProTyrAspHis
ENST00000690543.1:c.1719_1730dup ENSP00000508831.1:p.His577_Lys578insProTyrAspHis
ENST00000690917.1:n.1946_1957dup
ENST00000691361.1:n.638_649dup
ENST00000692783.1:c.1728_1739dup ENSP00000508733.1:p.His580_Lys581insProTyrAspHis
ENST00000692991.1:n.1825_1836dup
ENST00000288135.6:c.1728_1739dup MANE Select ENSP00000288135.6:p.His580_Lys581insProTyrAspHis
ENST00000288135.5:c.1728_1739dup ENSP00000288135.5:p.His580_Lys581insProTyrAspHis
ENST00000412167.6:c.1716_1727dup ENSP00000390987.2:p.His576_Lys577insProTyrAspHis
NM_000222.2:c.1728_1739dup , LRG_307t1:c.1728_1739dup NP_000213.1:p.His580_Lys581insProTyrAspHis
NM_001093772.1:c.1716_1727dup NP_001087241.1:p.His576_Lys577insProTyrAspHis
XM_005265740.1:c.1731_1742dup XP_005265797.1:p.His581_Lys582insProTyrAspHis
XM_005265741.1:c.1731_1742dup XP_005265798.1:p.His581_Lys582insProTyrAspHis
XM_005265742.1:c.1719_1730dup XP_005265799.1:p.His577_Lys578insProTyrAspHis
XM_005265742.3:c.1719_1730dup XP_005265799.1:p.His577_Lys578insProTyrAspHis
XM_017008178.1:c.1728_1739dup XP_016863667.1:p.His580_Lys581insProTyrAspHis
XM_017008179.1:c.1719_1730dup XP_016863668.1:p.His577_Lys578insProTyrAspHis
XM_017008180.1:c.1716_1727dup XP_016863669.1:p.His576_Lys577insProTyrAspHis
NM_000222.3:c.1728_1739dup MANE Select NP_000213.1:p.His580_Lys581insProTyrAspHis
NM_001093772.2:c.1716_1727dup NP_001087241.1:p.His576_Lys577insProTyrAspHis
NM_001385284.1:c.1731_1742dup NP_001372213.1:p.His581_Lys582insProTyrAspHis
NM_001385285.1:c.1728_1739dup NP_001372214.1:p.His580_Lys581insProTyrAspHis
NM_001385286.1:c.1716_1727dup NP_001372215.1:p.His576_Lys577insProTyrAspHis
NM_001385288.1:c.1719_1730dup NP_001372217.1:p.His577_Lys578insProTyrAspHis
NM_001385290.1:c.1731_1742dup NP_001372219.1:p.His581_Lys582insProTyrAspHis
NM_001385292.1:c.1719_1730dup NP_001372221.1:p.His577_Lys578insProTyrAspHis