Canonical Allele Identifier: CA2808057709
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727487_54727540dup , CM000666.2:g.54727487_54727540dup GRCh38
NC_000004.11:g.55593653_55593706dup , CM000666.1:g.55593653_55593706dup GRCh37
NC_000004.10:g.55288410_55288463dup NCBI36
NG_007456.1:g.74493_74546dup , LRG_307:g.74493_74546dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1710_1763dup ENSP00000390987.3:p.Ser587_Phe588insLeuThrGlnLeuProTyrAspHisL...
ENST00000685269.1:n.1797_1850dup
ENST00000686011.1:c.1707_1760dup ENSP00000509704.1:p.Ser586_Phe587insLeuThrGlnLeuProTyrAspHisL...
ENST00000687109.1:c.1722_1775dup ENSP00000509371.1:p.Ser591_Phe592insLeuThrGlnLeuProTyrAspHisL...
ENST00000687208.1:n.2134_2187dup
ENST00000687246.1:c.1707_1760dup ENSP00000509114.1:p.Ser586_Phe587insLeuThrGlnLeuProTyrAspHisL...
ENST00000687265.1:n.1877_1930dup
ENST00000687295.1:c.1707_1760dup ENSP00000509450.1:p.Ser586_Phe587insLeuThrGlnLeuProTyrAspHisL...
ENST00000689832.1:c.1722_1775dup ENSP00000509084.1:p.Ser591_Phe592insLeuThrGlnLeuProTyrAspHisL...
ENST00000689994.1:c.1209_1262dup ENSP00000509156.1:p.Ser420_Phe421insLeuThrGlnLeuProTyrAspHisL...
ENST00000690543.1:c.1710_1763dup ENSP00000508831.1:p.Ser587_Phe588insLeuThrGlnLeuProTyrAspHisL...
ENST00000690917.1:n.1937_1990dup
ENST00000691361.1:n.629_682dup
ENST00000692783.1:c.1719_1772dup ENSP00000508733.1:p.Ser590_Phe591insLeuThrGlnLeuProTyrAspHisL...
ENST00000692991.1:n.1816_1869dup
ENST00000288135.6:c.1719_1772dup MANE Select ENSP00000288135.6:p.Ser590_Phe591insLeuThrGlnLeuProTyrAspHisL...
ENST00000288135.5:c.1719_1772dup ENSP00000288135.5:p.Ser590_Phe591insLeuThrGlnLeuProTyrAspHisL...
ENST00000412167.6:c.1707_1760dup ENSP00000390987.2:p.Ser586_Phe587insLeuThrGlnLeuProTyrAspHisL...
NM_000222.2:c.1719_1772dup , LRG_307t1:c.1719_1772dup NP_000213.1:p.Ser590_Phe591insLeuThrGlnLeuProTyrAspHisLysTrpG...
NM_001093772.1:c.1707_1760dup NP_001087241.1:p.Ser586_Phe587insLeuThrGlnLeuProTyrAspHisLysT...
XM_005265740.1:c.1722_1775dup XP_005265797.1:p.Ser591_Phe592insLeuThrGlnLeuProTyrAspHisLysT...
XM_005265741.1:c.1722_1775dup XP_005265798.1:p.Ser591_Phe592insLeuThrGlnLeuProTyrAspHisLysT...
XM_005265742.1:c.1710_1763dup XP_005265799.1:p.Ser587_Phe588insLeuThrGlnLeuProTyrAspHisLysT...
XM_005265742.3:c.1710_1763dup XP_005265799.1:p.Ser587_Phe588insLeuThrGlnLeuProTyrAspHisLysT...
XM_017008178.1:c.1719_1772dup XP_016863667.1:p.Ser590_Phe591insLeuThrGlnLeuProTyrAspHisLysT...
XM_017008179.1:c.1710_1763dup XP_016863668.1:p.Ser587_Phe588insLeuThrGlnLeuProTyrAspHisLysT...
XM_017008180.1:c.1707_1760dup XP_016863669.1:p.Ser586_Phe587insLeuThrGlnLeuProTyrAspHisLysT...
NM_000222.3:c.1719_1772dup MANE Select NP_000213.1:p.Ser590_Phe591insLeuThrGlnLeuProTyrAspHisLysTrpG...
NM_001093772.2:c.1707_1760dup NP_001087241.1:p.Ser586_Phe587insLeuThrGlnLeuProTyrAspHisLysT...
NM_001385284.1:c.1722_1775dup NP_001372213.1:p.Ser591_Phe592insLeuThrGlnLeuProTyrAspHisLysT...
NM_001385285.1:c.1719_1772dup NP_001372214.1:p.Ser590_Phe591insLeuThrGlnLeuProTyrAspHisLysT...
NM_001385286.1:c.1707_1760dup NP_001372215.1:p.Ser586_Phe587insLeuThrGlnLeuProTyrAspHisLysT...
NM_001385288.1:c.1710_1763dup NP_001372217.1:p.Ser587_Phe588insLeuThrGlnLeuProTyrAspHisLysT...
NM_001385290.1:c.1722_1775dup NP_001372219.1:p.Ser591_Phe592insLeuThrGlnLeuProTyrAspHisLysT...
NM_001385292.1:c.1710_1763dup NP_001372221.1:p.Ser587_Phe588insLeuThrGlnLeuProTyrAspHisLysT...