Canonical Allele Identifier: CA645516867
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM133640

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727447_54727482del , CM000666.2:g.54727447_54727482del GRCh38
NC_000004.11:g.55593613_55593648del , CM000666.1:g.55593613_55593648del GRCh37
NC_000004.10:g.55288370_55288405del NCBI36
NG_007456.1:g.74453_74488del , LRG_307:g.74453_74488del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1670_1705del ENSP00000390987.3:p.Val557_Ile568del
ENST00000685269.1:n.1757_1792del
ENST00000686011.1:c.1667_1702del ENSP00000509704.1:p.Val556_Ile567del
ENST00000687109.1:c.1682_1717del ENSP00000509371.1:p.Val561_Ile572del
ENST00000687208.1:n.2094_2129del
ENST00000687246.1:c.1667_1702del ENSP00000509114.1:p.Val556_Ile567del
ENST00000687265.1:n.1837_1872del
ENST00000687295.1:c.1667_1702del ENSP00000509450.1:p.Val556_Ile567del
ENST00000689832.1:c.1682_1717del ENSP00000509084.1:p.Val561_Ile572del
ENST00000689994.1:c.1169_1204del ENSP00000509156.1:p.Val390_Ile401del
ENST00000690543.1:c.1670_1705del ENSP00000508831.1:p.Val557_Ile568del
ENST00000690917.1:n.1897_1932del
ENST00000691361.1:n.589_624del
ENST00000692783.1:c.1679_1714del ENSP00000508733.1:p.Val560_Ile571del
ENST00000692991.1:n.1776_1811del
ENST00000288135.6:c.1679_1714del MANE Select ENSP00000288135.6:p.Val560_Ile571del
ENST00000288135.5:c.1679_1714del ENSP00000288135.5:p.Val560_Ile571del
ENST00000412167.6:c.1667_1702del ENSP00000390987.2:p.Val556_Ile567del
NM_000222.2:c.1679_1714del , LRG_307t1:c.1679_1714del NP_000213.1:p.Val560_Ile571del
NM_001093772.1:c.1667_1702del NP_001087241.1:p.Val556_Ile567del
XM_005265740.1:c.1682_1717del XP_005265797.1:p.Val561_Ile572del
XM_005265741.1:c.1682_1717del XP_005265798.1:p.Val561_Ile572del
XM_005265742.1:c.1670_1705del XP_005265799.1:p.Val557_Ile568del
XM_005265742.3:c.1670_1705del XP_005265799.1:p.Val557_Ile568del
XM_017008178.1:c.1679_1714del XP_016863667.1:p.Val560_Ile571del
XM_017008179.1:c.1670_1705del XP_016863668.1:p.Val557_Ile568del
XM_017008180.1:c.1667_1702del XP_016863669.1:p.Val556_Ile567del
NM_000222.3:c.1679_1714del MANE Select NP_000213.1:p.Val560_Ile571del
NM_001093772.2:c.1667_1702del NP_001087241.1:p.Val556_Ile567del
NM_001385284.1:c.1682_1717del NP_001372213.1:p.Val561_Ile572del
NM_001385285.1:c.1679_1714del NP_001372214.1:p.Val560_Ile571del
NM_001385286.1:c.1667_1702del NP_001372215.1:p.Val556_Ile567del
NM_001385288.1:c.1670_1705del NP_001372217.1:p.Val557_Ile568del
NM_001385290.1:c.1682_1717del NP_001372219.1:p.Val561_Ile572del
NM_001385292.1:c.1670_1705del NP_001372221.1:p.Val557_Ile568del