Canonical Allele Identifier: CA2580583019
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727422_54727443delinsT , CM000666.2:g.54727422_54727443delinsT GRCh38
NC_000004.11:g.55593588_55593609delinsT , CM000666.1:g.55593588_55593609delinsT GRCh37
NC_000004.10:g.55288345_55288366delinsT NCBI36
NG_007456.1:g.74428_74449delinsT , LRG_307:g.74428_74449delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1645_1666delinsT ENSP00000390987.3:p.Met549_Val556delinsPhe
ENST00000685269.1:n.1732_1753delinsT
ENST00000686011.1:c.1642_1663delinsT ENSP00000509704.1:p.Met548_Val555delinsPhe
ENST00000687109.1:c.1657_1678delinsT ENSP00000509371.1:p.Met553_Val560delinsPhe
ENST00000687208.1:n.2069_2090delinsT
ENST00000687246.1:c.1642_1663delinsT ENSP00000509114.1:p.Met548_Val555delinsPhe
ENST00000687265.1:n.1812_1833delinsT
ENST00000687295.1:c.1642_1663delinsT ENSP00000509450.1:p.Met548_Val555delinsPhe
ENST00000689832.1:c.1657_1678delinsT ENSP00000509084.1:p.Met553_Val560delinsPhe
ENST00000689994.1:c.1144_1165delinsT ENSP00000509156.1:p.Met382_Val389delinsPhe
ENST00000690543.1:c.1645_1666delinsT ENSP00000508831.1:p.Met549_Val556delinsPhe
ENST00000690917.1:n.1872_1893delinsT
ENST00000691361.1:n.564_585delinsT
ENST00000692783.1:c.1654_1675delinsT ENSP00000508733.1:p.Met552_Val559delinsPhe
ENST00000692991.1:n.1751_1772delinsT
ENST00000288135.6:c.1654_1675delinsT MANE Select ENSP00000288135.6:p.Met552_Val559delinsPhe
ENST00000288135.5:c.1654_1675delinsT ENSP00000288135.5:p.Met552_Val559delinsPhe
ENST00000412167.6:c.1642_1663delinsT ENSP00000390987.2:p.Met548_Val555delinsPhe
NM_000222.2:c.1654_1675delinsT , LRG_307t1:c.1654_1675delinsT NP_000213.1:p.Met552_Val559delinsPhe
NM_001093772.1:c.1642_1663delinsT NP_001087241.1:p.Met548_Val555delinsPhe
XM_005265740.1:c.1657_1678delinsT XP_005265797.1:p.Met553_Val560delinsPhe
XM_005265741.1:c.1657_1678delinsT XP_005265798.1:p.Met553_Val560delinsPhe
XM_005265742.1:c.1645_1666delinsT XP_005265799.1:p.Met549_Val556delinsPhe
XM_005265742.3:c.1645_1666delinsT XP_005265799.1:p.Met549_Val556delinsPhe
XM_017008178.1:c.1654_1675delinsT XP_016863667.1:p.Met552_Val559delinsPhe
XM_017008179.1:c.1645_1666delinsT XP_016863668.1:p.Met549_Val556delinsPhe
XM_017008180.1:c.1642_1663delinsT XP_016863669.1:p.Met548_Val555delinsPhe
NM_000222.3:c.1654_1675delinsT MANE Select NP_000213.1:p.Met552_Val559delinsPhe
NM_001093772.2:c.1642_1663delinsT NP_001087241.1:p.Met548_Val555delinsPhe
NM_001385284.1:c.1657_1678delinsT NP_001372213.1:p.Met553_Val560delinsPhe
NM_001385285.1:c.1654_1675delinsT NP_001372214.1:p.Met552_Val559delinsPhe
NM_001385286.1:c.1642_1663delinsT NP_001372215.1:p.Met548_Val555delinsPhe
NM_001385288.1:c.1645_1666delinsT NP_001372217.1:p.Met549_Val556delinsPhe
NM_001385290.1:c.1657_1678delinsT NP_001372219.1:p.Met553_Val560delinsPhe
NM_001385292.1:c.1645_1666delinsT NP_001372221.1:p.Met549_Val556delinsPhe