Canonical Allele Identifier: CA645516762
Gene: KIT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727424_54727444del , CM000666.2:g.54727424_54727444del GRCh38
NC_000004.11:g.55593590_55593610del , CM000666.1:g.55593590_55593610del GRCh37
NC_000004.10:g.55288347_55288367del NCBI36
NG_007456.1:g.74430_74450del , LRG_307:g.74430_74450del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1647_1667del ENSP00000390987.3:p.Met549_Val556delinsIle
ENST00000685269.1:n.1734_1754del
ENST00000686011.1:c.1644_1664del ENSP00000509704.1:p.Met548_Val555delinsIle
ENST00000687109.1:c.1659_1679del ENSP00000509371.1:p.Met553_Val560delinsIle
ENST00000687208.1:n.2071_2091del
ENST00000687246.1:c.1644_1664del ENSP00000509114.1:p.Met548_Val555delinsIle
ENST00000687265.1:n.1814_1834del
ENST00000687295.1:c.1644_1664del ENSP00000509450.1:p.Met548_Val555delinsIle
ENST00000689832.1:c.1659_1679del ENSP00000509084.1:p.Met553_Val560delinsIle
ENST00000689994.1:c.1146_1166del ENSP00000509156.1:p.Met382_Val389delinsIle
ENST00000690543.1:c.1647_1667del ENSP00000508831.1:p.Met549_Val556delinsIle
ENST00000690917.1:n.1874_1894del
ENST00000691361.1:n.566_586del
ENST00000692783.1:c.1656_1676del ENSP00000508733.1:p.Met552_Val559delinsIle
ENST00000692991.1:n.1753_1773del
ENST00000288135.6:c.1656_1676del MANE Select ENSP00000288135.6:p.Met552_Val559delinsIle
ENST00000288135.5:c.1656_1676del ENSP00000288135.5:p.Met552_Val559delinsIle
ENST00000412167.6:c.1644_1664del ENSP00000390987.2:p.Met548_Val555delinsIle
NM_000222.2:c.1656_1676del , LRG_307t1:c.1656_1676del NP_000213.1:p.Met552_Val559delinsIle
NM_001093772.1:c.1644_1664del NP_001087241.1:p.Met548_Val555delinsIle
XM_005265740.1:c.1659_1679del XP_005265797.1:p.Met553_Val560delinsIle
XM_005265741.1:c.1659_1679del XP_005265798.1:p.Met553_Val560delinsIle
XM_005265742.1:c.1647_1667del XP_005265799.1:p.Met549_Val556delinsIle
XM_005265742.3:c.1647_1667del XP_005265799.1:p.Met549_Val556delinsIle
XM_017008178.1:c.1656_1676del XP_016863667.1:p.Met552_Val559delinsIle
XM_017008179.1:c.1647_1667del XP_016863668.1:p.Met549_Val556delinsIle
XM_017008180.1:c.1644_1664del XP_016863669.1:p.Met548_Val555delinsIle
NM_000222.3:c.1656_1676del MANE Select NP_000213.1:p.Met552_Val559delinsIle
NM_001093772.2:c.1644_1664del NP_001087241.1:p.Met548_Val555delinsIle
NM_001385284.1:c.1659_1679del NP_001372213.1:p.Met553_Val560delinsIle
NM_001385285.1:c.1656_1676del NP_001372214.1:p.Met552_Val559delinsIle
NM_001385286.1:c.1644_1664del NP_001372215.1:p.Met548_Val555delinsIle
NM_001385288.1:c.1647_1667del NP_001372217.1:p.Met549_Val556delinsIle
NM_001385290.1:c.1659_1679del NP_001372219.1:p.Met553_Val560delinsIle
NM_001385292.1:c.1647_1667del NP_001372221.1:p.Met549_Val556delinsIle