Canonical Allele Identifier: CA1458738852
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727443_54727488delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA , CM000666.2:g.54727443_54727488delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA GRCh38
NC_000004.11:g.55593609_55593654delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA , CM000666.1:g.55593609_55593654delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA GRCh37
NC_000004.10:g.55288366_55288411delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA NCBI36
NG_007456.1:g.74449_74494delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA , LRG_307:g.74449_74494delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA

Transcript Alleles

HGVS Amino-acid change
ENST00000412167.7:c.1666_1711delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA ENSP00000390987.3:p.Val556=
ENST00000685269.1:n.1753_1798delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA
ENST00000686011.1:c.1663_1708delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA ENSP00000509704.1:p.Val555=
ENST00000687109.1:c.1678_1723delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA ENSP00000509371.1:p.Val560=
ENST00000687208.1:n.2090_2135delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA
ENST00000687246.1:c.1663_1708delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA ENSP00000509114.1:p.Val555=
ENST00000687265.1:n.1833_1878delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA
ENST00000687295.1:c.1663_1708delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA ENSP00000509450.1:p.Val555=
ENST00000689832.1:c.1678_1723delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA ENSP00000509084.1:p.Val560=
ENST00000689994.1:c.1165_1210delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA ENSP00000509156.1:p.Val389=
ENST00000690543.1:c.1666_1711delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA ENSP00000508831.1:p.Val556=
ENST00000690917.1:n.1893_1938delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA
ENST00000691361.1:n.585_630delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA
ENST00000692783.1:c.1675_1720delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA ENSP00000508733.1:p.Val559=
ENST00000692991.1:n.1772_1817delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA
ENST00000288135.6:c.1675_1720delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA MANE Select ENSP00000288135.6:p.Val559=
ENST00000288135.5:c.1675_1720delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA ENSP00000288135.5:p.Val559=
ENST00000412167.6:c.1663_1708delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA ENSP00000390987.2:p.Val555=
NM_000222.2:c.1675_1720delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA , LRG_307t1:c.1675_1720delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA NP_000213.1:p.Val559=
NM_001093772.1:c.1663_1708delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA NP_001087241.1:p.Val555=
XM_005265740.1:c.1678_1723delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA XP_005265797.1:p.Val560=
XM_005265741.1:c.1678_1723delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA XP_005265798.1:p.Val560=
XM_005265742.1:c.1666_1711delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA XP_005265799.1:p.Val556=
XM_005265742.3:c.1666_1711delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA XP_005265799.1:p.Val556=
XM_017008178.1:c.1675_1720delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA XP_016863667.1:p.Val559=
XM_017008179.1:c.1666_1711delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA XP_016863668.1:p.Val556=
XM_017008180.1:c.1663_1708delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA XP_016863669.1:p.Val555=
NM_000222.3:c.1675_1720delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA MANE Select NP_000213.1:p.Val559=
NM_001093772.2:c.1663_1708delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA NP_001087241.1:p.Val555=
NM_001385284.1:c.1678_1723delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA NP_001372213.1:p.Val560=
NM_001385285.1:c.1675_1720delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA NP_001372214.1:p.Val559=
NM_001385286.1:c.1663_1708delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA NP_001372215.1:p.Val555=
NM_001385288.1:c.1666_1711delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA NP_001372217.1:p.Val556=
NM_001385290.1:c.1678_1723delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA NP_001372219.1:p.Val560=
NM_001385292.1:c.1666_1711delinsGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA NP_001372221.1:p.Val556=