Canonical Allele Identifier: CA891841836
Community Standard Title: NM_000222.3(KIT):c.1662_1667del (p.Val555_Gln556del)
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727430_54727435del , CM000666.2:g.54727430_54727435del GRCh38
NC_000004.11:g.55593596_55593601del , CM000666.1:g.55593596_55593601del GRCh37
NC_000004.10:g.55288353_55288358del NCBI36
NG_007456.1:g.74436_74441del , LRG_307:g.74436_74441del

Transcript Alleles

HGVS Amino-acid Change
NM_000222.3:c.1662_1667del MANE Select NP_000213.1:p.Val555_Gln556del
ENST00000288135.6:c.1662_1667del MANE Select ENSP00000288135.6:p.Val555_Gln556del
NM_000222.2:c.1662_1667del , LRG_307t1:c.1662_1667del NP_000213.1:p.Val555_Gln556del
NM_001093772.1:c.1650_1655del NP_001087241.1:p.Val551_Gln552del
NM_001093772.2:c.1650_1655del NP_001087241.1:p.Val551_Gln552del
NM_001385284.1:c.1665_1670del NP_001372213.1:p.Val556_Gln557del
NM_001385285.1:c.1662_1667del NP_001372214.1:p.Val555_Gln556del
NM_001385286.1:c.1650_1655del NP_001372215.1:p.Val551_Gln552del
NM_001385288.1:c.1653_1658del NP_001372217.1:p.Val552_Gln553del
NM_001385290.1:c.1665_1670del NP_001372219.1:p.Val556_Gln557del
NM_001385292.1:c.1653_1658del NP_001372221.1:p.Val552_Gln553del
ENST00000288135.5:c.1662_1667del ENSP00000288135.5:p.Val555_Gln556del
ENST00000412167.6:c.1650_1655del ENSP00000390987.2:p.Val551_Gln552del
ENST00000412167.7:c.1653_1658del ENSP00000390987.3:p.Val552_Gln553del
ENST00000685269.1:n.1740_1745del
ENST00000686011.1:c.1650_1655del ENSP00000509704.1:p.Val551_Gln552del
ENST00000687109.1:c.1665_1670del ENSP00000509371.1:p.Val556_Gln557del
ENST00000687208.1:n.2077_2082del
ENST00000687246.1:c.1650_1655del ENSP00000509114.1:p.Val551_Gln552del
ENST00000687265.1:n.1820_1825del
ENST00000687295.1:c.1650_1655del ENSP00000509450.1:p.Val551_Gln552del
ENST00000689832.1:c.1665_1670del ENSP00000509084.1:p.Val556_Gln557del
ENST00000689994.1:c.1152_1157del ENSP00000509156.1:p.Val385_Gln386del
ENST00000690543.1:c.1653_1658del ENSP00000508831.1:p.Val552_Gln553del
ENST00000690917.1:n.1880_1885del
ENST00000691361.1:n.572_577del
ENST00000692783.1:c.1662_1667del ENSP00000508733.1:p.Val555_Gln556del
ENST00000692991.1:n.1759_1764del
XM_005265740.1:c.1665_1670del XP_005265797.1:p.Val556_Gln557del
XM_005265741.1:c.1665_1670del XP_005265798.1:p.Val556_Gln557del
XM_005265742.1:c.1653_1658del XP_005265799.1:p.Val552_Gln553del
XM_005265742.3:c.1653_1658del XP_005265799.1:p.Val552_Gln553del
XM_017008178.1:c.1662_1667del XP_016863667.1:p.Val555_Gln556del
XM_017008179.1:c.1653_1658del XP_016863668.1:p.Val552_Gln553del
XM_017008180.1:c.1650_1655del XP_016863669.1:p.Val551_Gln552del