Canonical Allele Identifier: CA1458738768
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727420_54727428delinsCCATGTATG , CM000666.2:g.54727420_54727428delinsCCATGTATG GRCh38
NC_000004.11:g.55593586_55593594delinsCCATGTATG , CM000666.1:g.55593586_55593594delinsCCATGTATG GRCh37
NC_000004.10:g.55288343_55288351delinsCCATGTATG NCBI36
NG_007456.1:g.74426_74434delinsCCATGTATG , LRG_307:g.74426_74434delinsCCATGTATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1643_1651delinsCCATGTATG ENSP00000390987.3:p.Pro548=
ENST00000685269.1:n.1730_1738delinsCCATGTATG
ENST00000686011.1:c.1640_1648delinsCCATGTATG ENSP00000509704.1:p.Pro547=
ENST00000687109.1:c.1655_1663delinsCCATGTATG ENSP00000509371.1:p.Pro552=
ENST00000687208.1:n.2067_2075delinsCCATGTATG
ENST00000687246.1:c.1640_1648delinsCCATGTATG ENSP00000509114.1:p.Pro547=
ENST00000687265.1:n.1810_1818delinsCCATGTATG
ENST00000687295.1:c.1640_1648delinsCCATGTATG ENSP00000509450.1:p.Pro547=
ENST00000689832.1:c.1655_1663delinsCCATGTATG ENSP00000509084.1:p.Pro552=
ENST00000689994.1:c.1142_1150delinsCCATGTATG ENSP00000509156.1:p.Pro381=
ENST00000690543.1:c.1643_1651delinsCCATGTATG ENSP00000508831.1:p.Pro548=
ENST00000690917.1:n.1870_1878delinsCCATGTATG
ENST00000691361.1:n.562_570delinsCCATGTATG
ENST00000692783.1:c.1652_1660delinsCCATGTATG ENSP00000508733.1:p.Pro551=
ENST00000692991.1:n.1749_1757delinsCCATGTATG
ENST00000288135.6:c.1652_1660delinsCCATGTATG MANE Select ENSP00000288135.6:p.Pro551=
ENST00000288135.5:c.1652_1660delinsCCATGTATG ENSP00000288135.5:p.Pro551=
ENST00000412167.6:c.1640_1648delinsCCATGTATG ENSP00000390987.2:p.Pro547=
NM_000222.2:c.1652_1660delinsCCATGTATG , LRG_307t1:c.1652_1660delinsCCATGTATG NP_000213.1:p.Pro551=
NM_001093772.1:c.1640_1648delinsCCATGTATG NP_001087241.1:p.Pro547=
XM_005265740.1:c.1655_1663delinsCCATGTATG XP_005265797.1:p.Pro552=
XM_005265741.1:c.1655_1663delinsCCATGTATG XP_005265798.1:p.Pro552=
XM_005265742.1:c.1643_1651delinsCCATGTATG XP_005265799.1:p.Pro548=
XM_005265742.3:c.1643_1651delinsCCATGTATG XP_005265799.1:p.Pro548=
XM_017008178.1:c.1652_1660delinsCCATGTATG XP_016863667.1:p.Pro551=
XM_017008179.1:c.1643_1651delinsCCATGTATG XP_016863668.1:p.Pro548=
XM_017008180.1:c.1640_1648delinsCCATGTATG XP_016863669.1:p.Pro547=
NM_000222.3:c.1652_1660delinsCCATGTATG MANE Select NP_000213.1:p.Pro551=
NM_001093772.2:c.1640_1648delinsCCATGTATG NP_001087241.1:p.Pro547=
NM_001385284.1:c.1655_1663delinsCCATGTATG NP_001372213.1:p.Pro552=
NM_001385285.1:c.1652_1660delinsCCATGTATG NP_001372214.1:p.Pro551=
NM_001385286.1:c.1640_1648delinsCCATGTATG NP_001372215.1:p.Pro547=
NM_001385288.1:c.1643_1651delinsCCATGTATG NP_001372217.1:p.Pro548=
NM_001385290.1:c.1655_1663delinsCCATGTATG NP_001372219.1:p.Pro552=
NM_001385292.1:c.1643_1651delinsCCATGTATG NP_001372221.1:p.Pro548=