Canonical Allele Identifier: CA645516772
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM22275

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727426_54727488del , CM000666.2:g.54727426_54727488del GRCh38
NC_000004.11:g.55593592_55593654del , CM000666.1:g.55593592_55593654del GRCh37
NC_000004.10:g.55288349_55288411del NCBI36
NG_007456.1:g.74432_74494del , LRG_307:g.74432_74494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1649_1711del ENSP00000390987.3:p.Tyr550_Thr571delinsSer
ENST00000685269.1:n.1736_1798del
ENST00000686011.1:c.1646_1708del ENSP00000509704.1:p.Tyr549_Thr570delinsSer
ENST00000687109.1:c.1661_1723del ENSP00000509371.1:p.Tyr554_Thr575delinsSer
ENST00000687208.1:n.2073_2135del
ENST00000687246.1:c.1646_1708del ENSP00000509114.1:p.Tyr549_Thr570delinsSer
ENST00000687265.1:n.1816_1878del
ENST00000687295.1:c.1646_1708del ENSP00000509450.1:p.Tyr549_Thr570delinsSer
ENST00000689832.1:c.1661_1723del ENSP00000509084.1:p.Tyr554_Thr575delinsSer
ENST00000689994.1:c.1148_1210del ENSP00000509156.1:p.Tyr383_Thr404delinsSer
ENST00000690543.1:c.1649_1711del ENSP00000508831.1:p.Tyr550_Thr571delinsSer
ENST00000690917.1:n.1876_1938del
ENST00000691361.1:n.568_630del
ENST00000692783.1:c.1658_1720del ENSP00000508733.1:p.Tyr553_Thr574delinsSer
ENST00000692991.1:n.1755_1817del
ENST00000288135.6:c.1658_1720del MANE Select ENSP00000288135.6:p.Tyr553_Thr574delinsSer
ENST00000288135.5:c.1658_1720del ENSP00000288135.5:p.Tyr553_Thr574delinsSer
ENST00000412167.6:c.1646_1708del ENSP00000390987.2:p.Tyr549_Thr570delinsSer
NM_000222.2:c.1658_1720del , LRG_307t1:c.1658_1720del NP_000213.1:p.Tyr553_Thr574delinsSer
NM_001093772.1:c.1646_1708del NP_001087241.1:p.Tyr549_Thr570delinsSer
XM_005265740.1:c.1661_1723del XP_005265797.1:p.Tyr554_Thr575delinsSer
XM_005265741.1:c.1661_1723del XP_005265798.1:p.Tyr554_Thr575delinsSer
XM_005265742.1:c.1649_1711del XP_005265799.1:p.Tyr550_Thr571delinsSer
XM_005265742.3:c.1649_1711del XP_005265799.1:p.Tyr550_Thr571delinsSer
XM_017008178.1:c.1658_1720del XP_016863667.1:p.Tyr553_Thr574delinsSer
XM_017008179.1:c.1649_1711del XP_016863668.1:p.Tyr550_Thr571delinsSer
XM_017008180.1:c.1646_1708del XP_016863669.1:p.Tyr549_Thr570delinsSer
NM_000222.3:c.1658_1720del MANE Select NP_000213.1:p.Tyr553_Thr574delinsSer
NM_001093772.2:c.1646_1708del NP_001087241.1:p.Tyr549_Thr570delinsSer
NM_001385284.1:c.1661_1723del NP_001372213.1:p.Tyr554_Thr575delinsSer
NM_001385285.1:c.1658_1720del NP_001372214.1:p.Tyr553_Thr574delinsSer
NM_001385286.1:c.1646_1708del NP_001372215.1:p.Tyr549_Thr570delinsSer
NM_001385288.1:c.1649_1711del NP_001372217.1:p.Tyr550_Thr571delinsSer
NM_001385290.1:c.1661_1723del NP_001372219.1:p.Tyr554_Thr575delinsSer
NM_001385292.1:c.1649_1711del NP_001372221.1:p.Tyr550_Thr571delinsSer