Canonical Allele Identifier: CA645516929
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs2109777156
COSMIC: COSM1295

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727505_54727507del , CM000666.2:g.54727505_54727507del GRCh38
NC_000004.11:g.55593671_55593673del , CM000666.1:g.55593671_55593673del GRCh37
NC_000004.10:g.55288428_55288430del NCBI36
NG_007456.1:g.74511_74513del , LRG_307:g.74511_74513del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1728_1730del ENSP00000390987.3:p.His577del
ENST00000685269.1:n.1815_1817del
ENST00000686011.1:c.1725_1727del ENSP00000509704.1:p.His576del
ENST00000687109.1:c.1740_1742del ENSP00000509371.1:p.His581del
ENST00000687208.1:n.2152_2154del
ENST00000687246.1:c.1725_1727del ENSP00000509114.1:p.His576del
ENST00000687265.1:n.1895_1897del
ENST00000687295.1:c.1725_1727del ENSP00000509450.1:p.His576del
ENST00000689832.1:c.1740_1742del ENSP00000509084.1:p.His581del
ENST00000689994.1:c.1227_1229del ENSP00000509156.1:p.His410del
ENST00000690543.1:c.1728_1730del ENSP00000508831.1:p.His577del
ENST00000690917.1:n.1955_1957del
ENST00000691361.1:n.647_649del
ENST00000692783.1:c.1737_1739del ENSP00000508733.1:p.His580del
ENST00000692991.1:n.1834_1836del
ENST00000288135.6:c.1737_1739del MANE Select ENSP00000288135.6:p.His580del
ENST00000288135.5:c.1737_1739del ENSP00000288135.5:p.His580del
ENST00000412167.6:c.1725_1727del ENSP00000390987.2:p.His576del
NM_000222.2:c.1737_1739del , LRG_307t1:c.1737_1739del NP_000213.1:p.His580del
NM_001093772.1:c.1725_1727del NP_001087241.1:p.His576del
XM_005265740.1:c.1740_1742del XP_005265797.1:p.His581del
XM_005265741.1:c.1740_1742del XP_005265798.1:p.His581del
XM_005265742.1:c.1728_1730del XP_005265799.1:p.His577del
XM_005265742.3:c.1728_1730del XP_005265799.1:p.His577del
XM_017008178.1:c.1737_1739del XP_016863667.1:p.His580del
XM_017008179.1:c.1728_1730del XP_016863668.1:p.His577del
XM_017008180.1:c.1725_1727del XP_016863669.1:p.His576del
NM_000222.3:c.1737_1739del MANE Select NP_000213.1:p.His580del
NM_001093772.2:c.1725_1727del NP_001087241.1:p.His576del
NM_001385284.1:c.1740_1742del NP_001372213.1:p.His581del
NM_001385285.1:c.1737_1739del NP_001372214.1:p.His580del
NM_001385286.1:c.1725_1727del NP_001372215.1:p.His576del
NM_001385288.1:c.1728_1730del NP_001372217.1:p.His577del
NM_001385290.1:c.1740_1742del NP_001372219.1:p.His581del
NM_001385292.1:c.1728_1730del NP_001372221.1:p.His577del