Canonical Allele Identifier: CA645516739

Gene: KIT

Linked Data

• dbSNP Id: rs2109775490
• COSMIC: COSM1172

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727419_54727430del , CM000666.2:g.54727419_54727430del	GRCh38
NC_000004.11:g.55593585_55593596del , CM000666.1:g.55593585_55593596del	GRCh37
NC_000004.10:g.55288342_55288353del	NCBI36
NG_007456.1:g.74425_74436del , LRG_307:g.74425_74436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1642_1653del	ENSP00000390987.3:p.Pro548_Glu551del
ENST00000685269.1:n.1729_1740del
ENST00000686011.1:c.1639_1650del	ENSP00000509704.1:p.Pro547_Glu550del
ENST00000687109.1:c.1654_1665del	ENSP00000509371.1:p.Pro552_Glu555del
ENST00000687208.1:n.2066_2077del
ENST00000687246.1:c.1639_1650del	ENSP00000509114.1:p.Pro547_Glu550del
ENST00000687265.1:n.1809_1820del
ENST00000687295.1:c.1639_1650del	ENSP00000509450.1:p.Pro547_Glu550del
ENST00000689832.1:c.1654_1665del	ENSP00000509084.1:p.Pro552_Glu555del
ENST00000689994.1:c.1141_1152del	ENSP00000509156.1:p.Pro381_Glu384del
ENST00000690543.1:c.1642_1653del	ENSP00000508831.1:p.Pro548_Glu551del
ENST00000690917.1:n.1869_1880del
ENST00000691361.1:n.561_572del
ENST00000692783.1:c.1651_1662del	ENSP00000508733.1:p.Pro551_Glu554del
ENST00000692991.1:n.1748_1759del
ENST00000288135.6:c.1651_1662del MANE Select	ENSP00000288135.6:p.Pro551_Glu554del
ENST00000288135.5:c.1651_1662del	ENSP00000288135.5:p.Pro551_Glu554del
ENST00000412167.6:c.1639_1650del	ENSP00000390987.2:p.Pro547_Glu550del
NM_000222.2:c.1651_1662del , LRG_307t1:c.1651_1662del	NP_000213.1:p.Pro551_Glu554del
NM_001093772.1:c.1639_1650del	NP_001087241.1:p.Pro547_Glu550del
XM_005265740.1:c.1654_1665del	XP_005265797.1:p.Pro552_Glu555del
XM_005265741.1:c.1654_1665del	XP_005265798.1:p.Pro552_Glu555del
XM_005265742.1:c.1642_1653del	XP_005265799.1:p.Pro548_Glu551del
XM_005265742.3:c.1642_1653del	XP_005265799.1:p.Pro548_Glu551del
XM_017008178.1:c.1651_1662del	XP_016863667.1:p.Pro551_Glu554del
XM_017008179.1:c.1642_1653del	XP_016863668.1:p.Pro548_Glu551del
XM_017008180.1:c.1639_1650del	XP_016863669.1:p.Pro547_Glu550del
NM_000222.3:c.1651_1662del MANE Select	NP_000213.1:p.Pro551_Glu554del
NM_001093772.2:c.1639_1650del	NP_001087241.1:p.Pro547_Glu550del
NM_001385284.1:c.1654_1665del	NP_001372213.1:p.Pro552_Glu555del
NM_001385285.1:c.1651_1662del	NP_001372214.1:p.Pro551_Glu554del
NM_001385286.1:c.1639_1650del	NP_001372215.1:p.Pro547_Glu550del
NM_001385288.1:c.1642_1653del	NP_001372217.1:p.Pro548_Glu551del
NM_001385290.1:c.1654_1665del	NP_001372219.1:p.Pro552_Glu555del
NM_001385292.1:c.1642_1653del	NP_001372221.1:p.Pro548_Glu551del