Canonical Allele Identifier: CA645516895
Gene: KIT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727480_54727509dup , CM000666.2:g.54727480_54727509dup GRCh38
NC_000004.11:g.55593646_55593675dup , CM000666.1:g.55593646_55593675dup GRCh37
NC_000004.10:g.55288403_55288432dup NCBI36
NG_007456.1:g.74486_74515dup , LRG_307:g.74486_74515dup

Transcript Alleles

HGVS Amino-acid change
ENST00000412167.7:c.1703_1732dup ENSP00000390987.3:p.His577_Lys578insIleAspProThrGlnLeuProTyrA...
ENST00000685269.1:n.1790_1819dup
ENST00000686011.1:c.1700_1729dup ENSP00000509704.1:p.His576_Lys577insIleAspProThrGlnLeuProTyrA...
ENST00000687109.1:c.1715_1744dup ENSP00000509371.1:p.His581_Lys582insIleAspProThrGlnLeuProTyrA...
ENST00000687208.1:n.2127_2156dup
ENST00000687246.1:c.1700_1729dup ENSP00000509114.1:p.His576_Lys577insIleAspProThrGlnLeuProTyrA...
ENST00000687265.1:n.1870_1899dup
ENST00000687295.1:c.1700_1729dup ENSP00000509450.1:p.His576_Lys577insIleAspProThrGlnLeuProTyrA...
ENST00000689832.1:c.1715_1744dup ENSP00000509084.1:p.His581_Lys582insIleAspProThrGlnLeuProTyrA...
ENST00000689994.1:c.1202_1231dup ENSP00000509156.1:p.His410_Lys411insIleAspProThrGlnLeuProTyrA...
ENST00000690543.1:c.1703_1732dup ENSP00000508831.1:p.His577_Lys578insIleAspProThrGlnLeuProTyrA...
ENST00000690917.1:n.1930_1959dup
ENST00000691361.1:n.622_651dup
ENST00000692783.1:c.1712_1741dup ENSP00000508733.1:p.His580_Lys581insIleAspProThrGlnLeuProTyrA...
ENST00000692991.1:n.1809_1838dup
ENST00000288135.6:c.1712_1741dup MANE Select ENSP00000288135.6:p.His580_Lys581insIleAspProThrGlnLeuProTyrA...
ENST00000288135.5:c.1712_1741dup ENSP00000288135.5:p.His580_Lys581insIleAspProThrGlnLeuProTyrA...
ENST00000412167.6:c.1700_1729dup ENSP00000390987.2:p.His576_Lys577insIleAspProThrGlnLeuProTyrA...
NM_000222.2:c.1712_1741dup , LRG_307t1:c.1712_1741dup NP_000213.1:p.His580_Lys581insIleAspProThrGlnLeuProTyrAspHis
NM_001093772.1:c.1700_1729dup NP_001087241.1:p.His576_Lys577insIleAspProThrGlnLeuProTyrAspH...
XM_005265740.1:c.1715_1744dup XP_005265797.1:p.His581_Lys582insIleAspProThrGlnLeuProTyrAspH...
XM_005265741.1:c.1715_1744dup XP_005265798.1:p.His581_Lys582insIleAspProThrGlnLeuProTyrAspH...
XM_005265742.1:c.1703_1732dup XP_005265799.1:p.His577_Lys578insIleAspProThrGlnLeuProTyrAspH...
XM_005265742.3:c.1703_1732dup XP_005265799.1:p.His577_Lys578insIleAspProThrGlnLeuProTyrAspH...
XM_017008178.1:c.1712_1741dup XP_016863667.1:p.His580_Lys581insIleAspProThrGlnLeuProTyrAspH...
XM_017008179.1:c.1703_1732dup XP_016863668.1:p.His577_Lys578insIleAspProThrGlnLeuProTyrAspH...
XM_017008180.1:c.1700_1729dup XP_016863669.1:p.His576_Lys577insIleAspProThrGlnLeuProTyrAspH...
NM_000222.3:c.1712_1741dup MANE Select NP_000213.1:p.His580_Lys581insIleAspProThrGlnLeuProTyrAspHis
NM_001093772.2:c.1700_1729dup NP_001087241.1:p.His576_Lys577insIleAspProThrGlnLeuProTyrAspH...
NM_001385284.1:c.1715_1744dup NP_001372213.1:p.His581_Lys582insIleAspProThrGlnLeuProTyrAspH...
NM_001385285.1:c.1712_1741dup NP_001372214.1:p.His580_Lys581insIleAspProThrGlnLeuProTyrAspH...
NM_001385286.1:c.1700_1729dup NP_001372215.1:p.His576_Lys577insIleAspProThrGlnLeuProTyrAspH...
NM_001385288.1:c.1703_1732dup NP_001372217.1:p.His577_Lys578insIleAspProThrGlnLeuProTyrAspH...
NM_001385290.1:c.1715_1744dup NP_001372219.1:p.His581_Lys582insIleAspProThrGlnLeuProTyrAspH...
NM_001385292.1:c.1703_1732dup NP_001372221.1:p.His577_Lys578insIleAspProThrGlnLeuProTyrAspH...