Canonical Allele Identifier: CA645516870
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM36307

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727449_54727499del , CM000666.2:g.54727449_54727499del GRCh38
NC_000004.11:g.55593615_55593665del , CM000666.1:g.55593615_55593665del GRCh37
NC_000004.10:g.55288372_55288422del NCBI36
NG_007456.1:g.74455_74505del , LRG_307:g.74455_74505del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1672_1722del ENSP00000390987.3:p.Glu558_Pro574del
ENST00000685269.1:n.1759_1809del
ENST00000686011.1:c.1669_1719del ENSP00000509704.1:p.Glu557_Pro573del
ENST00000687109.1:c.1684_1734del ENSP00000509371.1:p.Glu562_Pro578del
ENST00000687208.1:n.2096_2146del
ENST00000687246.1:c.1669_1719del ENSP00000509114.1:p.Glu557_Pro573del
ENST00000687265.1:n.1839_1889del
ENST00000687295.1:c.1669_1719del ENSP00000509450.1:p.Glu557_Pro573del
ENST00000689832.1:c.1684_1734del ENSP00000509084.1:p.Glu562_Pro578del
ENST00000689994.1:c.1171_1221del ENSP00000509156.1:p.Glu391_Pro407del
ENST00000690543.1:c.1672_1722del ENSP00000508831.1:p.Glu558_Pro574del
ENST00000690917.1:n.1899_1949del
ENST00000691361.1:n.591_641del
ENST00000692783.1:c.1681_1731del ENSP00000508733.1:p.Glu561_Pro577del
ENST00000692991.1:n.1778_1828del
ENST00000288135.6:c.1681_1731del MANE Select ENSP00000288135.6:p.Glu561_Pro577del
ENST00000288135.5:c.1681_1731del ENSP00000288135.5:p.Glu561_Pro577del
ENST00000412167.6:c.1669_1719del ENSP00000390987.2:p.Glu557_Pro573del
NM_000222.2:c.1681_1731del , LRG_307t1:c.1681_1731del NP_000213.1:p.Glu561_Pro577del
NM_001093772.1:c.1669_1719del NP_001087241.1:p.Glu557_Pro573del
XM_005265740.1:c.1684_1734del XP_005265797.1:p.Glu562_Pro578del
XM_005265741.1:c.1684_1734del XP_005265798.1:p.Glu562_Pro578del
XM_005265742.1:c.1672_1722del XP_005265799.1:p.Glu558_Pro574del
XM_005265742.3:c.1672_1722del XP_005265799.1:p.Glu558_Pro574del
XM_017008178.1:c.1681_1731del XP_016863667.1:p.Glu561_Pro577del
XM_017008179.1:c.1672_1722del XP_016863668.1:p.Glu558_Pro574del
XM_017008180.1:c.1669_1719del XP_016863669.1:p.Glu557_Pro573del
NM_000222.3:c.1681_1731del MANE Select NP_000213.1:p.Glu561_Pro577del
NM_001093772.2:c.1669_1719del NP_001087241.1:p.Glu557_Pro573del
NM_001385284.1:c.1684_1734del NP_001372213.1:p.Glu562_Pro578del
NM_001385285.1:c.1681_1731del NP_001372214.1:p.Glu561_Pro577del
NM_001385286.1:c.1669_1719del NP_001372215.1:p.Glu557_Pro573del
NM_001385288.1:c.1672_1722del NP_001372217.1:p.Glu558_Pro574del
NM_001385290.1:c.1684_1734del NP_001372219.1:p.Glu562_Pro578del
NM_001385292.1:c.1672_1722del NP_001372221.1:p.Glu558_Pro574del