Canonical Allele Identifier: CA3261188285
Community Standard Title: NM_000222.3(KIT):c.1664_1717del (p.Val555_Pro573delinsAla)
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727432_54727485del , CM000666.2:g.54727432_54727485del GRCh38
NC_000004.11:g.55593598_55593651del , CM000666.1:g.55593598_55593651del GRCh37
NC_000004.10:g.55288355_55288408del NCBI36
NG_007456.1:g.74438_74491del , LRG_307:g.74438_74491del

Transcript Alleles

HGVS Amino-acid Change
NM_000222.3:c.1664_1717del MANE Select NP_000213.1:p.Val555_Pro573delinsAla
ENST00000288135.6:c.1664_1717del MANE Select ENSP00000288135.6:p.Val555_Pro573delinsAla
NM_000222.2:c.1664_1717del , LRG_307t1:c.1664_1717del NP_000213.1:p.Val555_Pro573delinsAla
NM_001093772.1:c.1652_1705del NP_001087241.1:p.Val551_Pro569delinsAla
NM_001093772.2:c.1652_1705del NP_001087241.1:p.Val551_Pro569delinsAla
NM_001385284.1:c.1667_1720del NP_001372213.1:p.Val556_Pro574delinsAla
NM_001385285.1:c.1664_1717del NP_001372214.1:p.Val555_Pro573delinsAla
NM_001385286.1:c.1652_1705del NP_001372215.1:p.Val551_Pro569delinsAla
NM_001385288.1:c.1655_1708del NP_001372217.1:p.Val552_Pro570delinsAla
NM_001385290.1:c.1667_1720del NP_001372219.1:p.Val556_Pro574delinsAla
NM_001385292.1:c.1655_1708del NP_001372221.1:p.Val552_Pro570delinsAla
ENST00000288135.5:c.1664_1717del ENSP00000288135.5:p.Val555_Pro573delinsAla
ENST00000412167.6:c.1652_1705del ENSP00000390987.2:p.Val551_Pro569delinsAla
ENST00000412167.7:c.1655_1708del ENSP00000390987.3:p.Val552_Pro570delinsAla
ENST00000685269.1:n.1742_1795del
ENST00000686011.1:c.1652_1705del ENSP00000509704.1:p.Val551_Pro569delinsAla
ENST00000687109.1:c.1667_1720del ENSP00000509371.1:p.Val556_Pro574delinsAla
ENST00000687208.1:n.2079_2132del
ENST00000687246.1:c.1652_1705del ENSP00000509114.1:p.Val551_Pro569delinsAla
ENST00000687265.1:n.1822_1875del
ENST00000687295.1:c.1652_1705del ENSP00000509450.1:p.Val551_Pro569delinsAla
ENST00000689832.1:c.1667_1720del ENSP00000509084.1:p.Val556_Pro574delinsAla
ENST00000689994.1:c.1154_1207del ENSP00000509156.1:p.Val385_Pro403delinsAla
ENST00000690543.1:c.1655_1708del ENSP00000508831.1:p.Val552_Pro570delinsAla
ENST00000690917.1:n.1882_1935del
ENST00000691361.1:n.574_627del
ENST00000692783.1:c.1664_1717del ENSP00000508733.1:p.Val555_Pro573delinsAla
ENST00000692991.1:n.1761_1814del
XM_005265740.1:c.1667_1720del XP_005265797.1:p.Val556_Pro574delinsAla
XM_005265741.1:c.1667_1720del XP_005265798.1:p.Val556_Pro574delinsAla
XM_005265742.1:c.1655_1708del XP_005265799.1:p.Val552_Pro570delinsAla
XM_005265742.3:c.1655_1708del XP_005265799.1:p.Val552_Pro570delinsAla
XM_017008178.1:c.1664_1717del XP_016863667.1:p.Val555_Pro573delinsAla
XM_017008179.1:c.1655_1708del XP_016863668.1:p.Val552_Pro570delinsAla
XM_017008180.1:c.1652_1705del XP_016863669.1:p.Val551_Pro569delinsAla