Canonical Allele Identifier: CA645516859
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM36300

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727443_54727496del , CM000666.2:g.54727443_54727496del GRCh38
NC_000004.11:g.55593609_55593662del , CM000666.1:g.55593609_55593662del GRCh37
NC_000004.10:g.55288366_55288419del NCBI36
NG_007456.1:g.74449_74502del , LRG_307:g.74449_74502del

Transcript Alleles

HGVS Amino-acid change
ENST00000412167.7:c.1666_1719del ENSP00000390987.3:p.Val556_Leu573del
ENST00000685269.1:n.1753_1806del
ENST00000686011.1:c.1663_1716del ENSP00000509704.1:p.Val555_Leu572del
ENST00000687109.1:c.1678_1731del ENSP00000509371.1:p.Val560_Leu577del
ENST00000687208.1:n.2090_2143del
ENST00000687246.1:c.1663_1716del ENSP00000509114.1:p.Val555_Leu572del
ENST00000687265.1:n.1833_1886del
ENST00000687295.1:c.1663_1716del ENSP00000509450.1:p.Val555_Leu572del
ENST00000689832.1:c.1678_1731del ENSP00000509084.1:p.Val560_Leu577del
ENST00000689994.1:c.1165_1218del ENSP00000509156.1:p.Val389_Leu406del
ENST00000690543.1:c.1666_1719del ENSP00000508831.1:p.Val556_Leu573del
ENST00000690917.1:n.1893_1946del
ENST00000691361.1:n.585_638del
ENST00000692783.1:c.1675_1728del ENSP00000508733.1:p.Val559_Leu576del
ENST00000692991.1:n.1772_1825del
ENST00000288135.6:c.1675_1728del MANE Select ENSP00000288135.6:p.Val559_Leu576del
ENST00000288135.5:c.1675_1728del ENSP00000288135.5:p.Val559_Leu576del
ENST00000412167.6:c.1663_1716del ENSP00000390987.2:p.Val555_Leu572del
NM_000222.2:c.1675_1728del , LRG_307t1:c.1675_1728del NP_000213.1:p.Val559_Leu576del
NM_001093772.1:c.1663_1716del NP_001087241.1:p.Val555_Leu572del
XM_005265740.1:c.1678_1731del XP_005265797.1:p.Val560_Leu577del
XM_005265741.1:c.1678_1731del XP_005265798.1:p.Val560_Leu577del
XM_005265742.1:c.1666_1719del XP_005265799.1:p.Val556_Leu573del
XM_005265742.3:c.1666_1719del XP_005265799.1:p.Val556_Leu573del
XM_017008178.1:c.1675_1728del XP_016863667.1:p.Val559_Leu576del
XM_017008179.1:c.1666_1719del XP_016863668.1:p.Val556_Leu573del
XM_017008180.1:c.1663_1716del XP_016863669.1:p.Val555_Leu572del
NM_000222.3:c.1675_1728del MANE Select NP_000213.1:p.Val559_Leu576del
NM_001093772.2:c.1663_1716del NP_001087241.1:p.Val555_Leu572del
NM_001385284.1:c.1678_1731del NP_001372213.1:p.Val560_Leu577del
NM_001385285.1:c.1675_1728del NP_001372214.1:p.Val559_Leu576del
NM_001385286.1:c.1663_1716del NP_001372215.1:p.Val555_Leu572del
NM_001385288.1:c.1666_1719del NP_001372217.1:p.Val556_Leu573del
NM_001385290.1:c.1678_1731del NP_001372219.1:p.Val560_Leu577del
NM_001385292.1:c.1666_1719del NP_001372221.1:p.Val556_Leu573del