Canonical Allele Identifier: CA645516718
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM19115

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54726016_54726030dup , CM000666.2:g.54726016_54726030dup GRCh38
NC_000004.11:g.55592182_55592196dup , CM000666.1:g.55592182_55592196dup GRCh37
NC_000004.10:g.55286939_55286953dup NCBI36
NG_007456.1:g.73022_73036dup , LRG_307:g.73022_73036dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1509_1523dup ENSP00000390987.3:p.Ala508_Phe509insTyrPheAsnPheAla
ENST00000685269.1:n.1584_1598dup
ENST00000685816.1:c.444_458dup ENSP00000508749.1:p.Ala153_Phe154insTyrPheAsnPheAla
ENST00000686011.1:c.1506_1520dup ENSP00000509704.1:p.Ala507_Phe508insTyrPheAsnPheAla
ENST00000687109.1:c.1509_1523dup ENSP00000509371.1:p.Ala508_Phe509insTyrPheAsnPheAla
ENST00000687208.1:n.1921_1935dup
ENST00000687246.1:c.1506_1520dup ENSP00000509114.1:p.Ala507_Phe508insTyrPheAsnPheAla
ENST00000687265.1:n.1676_1690dup
ENST00000687295.1:c.1506_1520dup ENSP00000509450.1:p.Ala507_Phe508insTyrPheAsnPheAla
ENST00000689832.1:c.1509_1523dup ENSP00000509084.1:p.Ala508_Phe509insTyrPheAsnPheAla
ENST00000689994.1:c.996_1010dup ENSP00000509156.1:p.Ala337_Phe338insTyrPheAsnPheAla
ENST00000690543.1:c.1509_1523dup ENSP00000508831.1:p.Ala508_Phe509insTyrPheAsnPheAla
ENST00000690917.1:n.1724_1738dup
ENST00000691361.1:n.428_442dup
ENST00000692783.1:c.1506_1520dup ENSP00000508733.1:p.Ala507_Phe508insTyrPheAsnPheAla
ENST00000692991.1:n.1615_1629dup
ENST00000288135.6:c.1506_1520dup MANE Select ENSP00000288135.6:p.Ala507_Phe508insTyrPheAsnPheAla
ENST00000288135.5:c.1506_1520dup ENSP00000288135.5:p.Ala507_Phe508insTyrPheAsnPheAla
ENST00000412167.6:c.1506_1520dup ENSP00000390987.2:p.Ala507_Phe508insTyrPheAsnPheAla
NM_000222.2:c.1506_1520dup , LRG_307t1:c.1506_1520dup NP_000213.1:p.Ala507_Phe508insTyrPheAsnPheAla
NM_001093772.1:c.1506_1520dup NP_001087241.1:p.Ala507_Phe508insTyrPheAsnPheAla
XM_005265740.1:c.1509_1523dup XP_005265797.1:p.Ala508_Phe509insTyrPheAsnPheAla
XM_005265741.1:c.1509_1523dup XP_005265798.1:p.Ala508_Phe509insTyrPheAsnPheAla
XM_005265742.1:c.1509_1523dup XP_005265799.1:p.Ala508_Phe509insTyrPheAsnPheAla
XM_005265742.3:c.1509_1523dup XP_005265799.1:p.Ala508_Phe509insTyrPheAsnPheAla
XM_017008178.1:c.1506_1520dup XP_016863667.1:p.Ala507_Phe508insTyrPheAsnPheAla
XM_017008179.1:c.1509_1523dup XP_016863668.1:p.Ala508_Phe509insTyrPheAsnPheAla
XM_017008180.1:c.1506_1520dup XP_016863669.1:p.Ala507_Phe508insTyrPheAsnPheAla
NM_000222.3:c.1506_1520dup MANE Select NP_000213.1:p.Ala507_Phe508insTyrPheAsnPheAla
NM_001093772.2:c.1506_1520dup NP_001087241.1:p.Ala507_Phe508insTyrPheAsnPheAla
NM_001385284.1:c.1509_1523dup NP_001372213.1:p.Ala508_Phe509insTyrPheAsnPheAla
NM_001385285.1:c.1506_1520dup NP_001372214.1:p.Ala507_Phe508insTyrPheAsnPheAla
NM_001385286.1:c.1506_1520dup NP_001372215.1:p.Ala507_Phe508insTyrPheAsnPheAla
NM_001385288.1:c.1509_1523dup NP_001372217.1:p.Ala508_Phe509insTyrPheAsnPheAla
NM_001385290.1:c.1509_1523dup NP_001372219.1:p.Ala508_Phe509insTyrPheAsnPheAla
NM_001385292.1:c.1509_1523dup NP_001372221.1:p.Ala508_Phe509insTyrPheAsnPheAla