Canonical Allele Identifier: CA2840299893
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727347_54727348del , CM000666.2:g.54727347_54727348del GRCh38
NC_000004.11:g.55593513_55593514del , CM000666.1:g.55593513_55593514del GRCh37
NC_000004.10:g.55288270_55288271del NCBI36
NG_007456.1:g.74353_74354del , LRG_307:g.74353_74354del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1638+23_1638+24del ENSP00000390987.3:n.1638+23_1638+24del
ENST00000685269.1:n.1725+23_1725+24del
ENST00000686011.1:c.1635+23_1635+24del ENSP00000509704.1:n.1635+23_1635+24del
ENST00000687109.1:c.1650+23_1650+24del ENSP00000509371.1:n.1650+23_1650+24del
ENST00000687208.1:n.2062+23_2062+24del
ENST00000687246.1:c.1635+23_1635+24del ENSP00000509114.1:n.1635+23_1635+24del
ENST00000687265.1:n.1805+23_1805+24del
ENST00000687295.1:c.1635+23_1635+24del ENSP00000509450.1:n.1635+23_1635+24del
ENST00000689832.1:c.1650+23_1650+24del ENSP00000509084.1:n.1650+23_1650+24del
ENST00000689994.1:c.1137+23_1137+24del ENSP00000509156.1:n.1137+23_1137+24del
ENST00000690543.1:c.1638+23_1638+24del ENSP00000508831.1:n.1638+23_1638+24del
ENST00000690917.1:n.1865+23_1865+24del
ENST00000691361.1:n.557+23_557+24del
ENST00000692783.1:c.1647+23_1647+24del ENSP00000508733.1:n.1647+23_1647+24del
ENST00000692991.1:n.1744+23_1744+24del
ENST00000288135.6:c.1647+23_1647+24del MANE Select ENSP00000288135.6:n.1647+23_1647+24del
ENST00000288135.5:c.1647+23_1647+24del ENSP00000288135.5:n.1647+23_1647+24del
ENST00000412167.6:c.1635+23_1635+24del ENSP00000390987.2:n.1635+23_1635+24del
NM_000222.2:c.1647+23_1647+24del , LRG_307t1:c.1647+23_1647+24del NP_000213.1:n.1647+23_1647+24del
NM_001093772.1:c.1635+23_1635+24del NP_001087241.1:n.1635+23_1635+24del
XM_005265740.1:c.1650+23_1650+24del XP_005265797.1:n.1650+23_1650+24del
XM_005265741.1:c.1650+23_1650+24del XP_005265798.1:n.1650+23_1650+24del
XM_005265742.1:c.1638+23_1638+24del XP_005265799.1:n.1638+23_1638+24del
XM_005265742.3:c.1638+23_1638+24del XP_005265799.1:n.1638+23_1638+24del
XM_017008178.1:c.1647+23_1647+24del XP_016863667.1:n.1647+23_1647+24del
XM_017008179.1:c.1638+23_1638+24del XP_016863668.1:n.1638+23_1638+24del
XM_017008180.1:c.1635+23_1635+24del XP_016863669.1:n.1635+23_1635+24del
NM_000222.3:c.1647+23_1647+24del MANE Select NP_000213.1:n.1647+23_1647+24del
NM_001093772.2:c.1635+23_1635+24del NP_001087241.1:n.1635+23_1635+24del
NM_001385284.1:c.1650+23_1650+24del NP_001372213.1:n.1650+23_1650+24del
NM_001385285.1:c.1647+23_1647+24del NP_001372214.1:n.1647+23_1647+24del
NM_001385286.1:c.1635+23_1635+24del NP_001372215.1:n.1635+23_1635+24del
NM_001385288.1:c.1638+23_1638+24del NP_001372217.1:n.1638+23_1638+24del
NM_001385290.1:c.1650+23_1650+24del NP_001372219.1:n.1650+23_1650+24del
NM_001385292.1:c.1638+23_1638+24del NP_001372221.1:n.1638+23_1638+24del