Canonical Allele Identifier: CA645516818

Gene: KIT

Linked Data

• dbSNP Id: rs2109775994
• COSMIC: COSM1218

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727437_54727445del , CM000666.2:g.54727437_54727445del	GRCh38
NC_000004.11:g.55593603_55593611del , CM000666.1:g.55593603_55593611del	GRCh37
NC_000004.10:g.55288360_55288368del	NCBI36
NG_007456.1:g.74443_74451del , LRG_307:g.74443_74451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1660_1668del	ENSP00000390987.3:p.Trp554_Val556del
ENST00000685269.1:n.1747_1755del
ENST00000686011.1:c.1657_1665del	ENSP00000509704.1:p.Trp553_Val555del
ENST00000687109.1:c.1672_1680del	ENSP00000509371.1:p.Trp558_Val560del
ENST00000687208.1:n.2084_2092del
ENST00000687246.1:c.1657_1665del	ENSP00000509114.1:p.Trp553_Val555del
ENST00000687265.1:n.1827_1835del
ENST00000687295.1:c.1657_1665del	ENSP00000509450.1:p.Trp553_Val555del
ENST00000689832.1:c.1672_1680del	ENSP00000509084.1:p.Trp558_Val560del
ENST00000689994.1:c.1159_1167del	ENSP00000509156.1:p.Trp387_Val389del
ENST00000690543.1:c.1660_1668del	ENSP00000508831.1:p.Trp554_Val556del
ENST00000690917.1:n.1887_1895del
ENST00000691361.1:n.579_587del
ENST00000692783.1:c.1669_1677del	ENSP00000508733.1:p.Trp557_Val559del
ENST00000692991.1:n.1766_1774del
ENST00000288135.6:c.1669_1677del MANE Select	ENSP00000288135.6:p.Trp557_Val559del
ENST00000288135.5:c.1669_1677del	ENSP00000288135.5:p.Trp557_Val559del
ENST00000412167.6:c.1657_1665del	ENSP00000390987.2:p.Trp553_Val555del
NM_000222.2:c.1669_1677del , LRG_307t1:c.1669_1677del	NP_000213.1:p.Trp557_Val559del
NM_001093772.1:c.1657_1665del	NP_001087241.1:p.Trp553_Val555del
XM_005265740.1:c.1672_1680del	XP_005265797.1:p.Trp558_Val560del
XM_005265741.1:c.1672_1680del	XP_005265798.1:p.Trp558_Val560del
XM_005265742.1:c.1660_1668del	XP_005265799.1:p.Trp554_Val556del
XM_005265742.3:c.1660_1668del	XP_005265799.1:p.Trp554_Val556del
XM_017008178.1:c.1669_1677del	XP_016863667.1:p.Trp557_Val559del
XM_017008179.1:c.1660_1668del	XP_016863668.1:p.Trp554_Val556del
XM_017008180.1:c.1657_1665del	XP_016863669.1:p.Trp553_Val555del
NM_000222.3:c.1669_1677del MANE Select	NP_000213.1:p.Trp557_Val559del
NM_001093772.2:c.1657_1665del	NP_001087241.1:p.Trp553_Val555del
NM_001385284.1:c.1672_1680del	NP_001372213.1:p.Trp558_Val560del
NM_001385285.1:c.1669_1677del	NP_001372214.1:p.Trp557_Val559del
NM_001385286.1:c.1657_1665del	NP_001372215.1:p.Trp553_Val555del
NM_001385288.1:c.1660_1668del	NP_001372217.1:p.Trp554_Val556del
NM_001385290.1:c.1672_1680del	NP_001372219.1:p.Trp558_Val560del
NM_001385292.1:c.1660_1668del	NP_001372221.1:p.Trp554_Val556del