Canonical Allele Identifier: CA645516831
Community Standard Title: NM_000222.3(KIT):c.1671_1673delinsCAC (p.Trp557_Lys558delinsCysThr)
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727439_54727441delinsCAC , CM000666.2:g.54727439_54727441delinsCAC GRCh38
NC_000004.11:g.55593605_55593607delinsCAC , CM000666.1:g.55593605_55593607delinsCAC GRCh37
NC_000004.10:g.55288362_55288364delinsCAC NCBI36
NG_007456.1:g.74445_74447delinsCAC , LRG_307:g.74445_74447delinsCAC

Transcript Alleles

HGVS Amino-acid Change
NM_000222.3:c.1671_1673delinsCAC MANE Select NP_000213.1:p.Trp557_Lys558delinsCysThr
ENST00000288135.6:c.1671_1673delinsCAC MANE Select ENSP00000288135.6:p.Trp557_Lys558delinsCysThr
NM_000222.2:c.1671_1673delinsCAC , LRG_307t1:c.1671_1673delinsCAC NP_000213.1:p.Trp557_Lys558delinsCysThr
NM_001093772.1:c.1659_1661delinsCAC NP_001087241.1:p.Trp553_Lys554delinsCysThr
NM_001093772.2:c.1659_1661delinsCAC NP_001087241.1:p.Trp553_Lys554delinsCysThr
NM_001385284.1:c.1674_1676delinsCAC NP_001372213.1:p.Trp558_Lys559delinsCysThr
NM_001385285.1:c.1671_1673delinsCAC NP_001372214.1:p.Trp557_Lys558delinsCysThr
NM_001385286.1:c.1659_1661delinsCAC NP_001372215.1:p.Trp553_Lys554delinsCysThr
NM_001385288.1:c.1662_1664delinsCAC NP_001372217.1:p.Trp554_Lys555delinsCysThr
NM_001385290.1:c.1674_1676delinsCAC NP_001372219.1:p.Trp558_Lys559delinsCysThr
NM_001385292.1:c.1662_1664delinsCAC NP_001372221.1:p.Trp554_Lys555delinsCysThr
ENST00000288135.5:c.1671_1673delinsCAC ENSP00000288135.5:p.Trp557_Lys558delinsCysThr
ENST00000412167.6:c.1659_1661delinsCAC ENSP00000390987.2:p.Trp553_Lys554delinsCysThr
ENST00000412167.7:c.1662_1664delinsCAC ENSP00000390987.3:p.Trp554_Lys555delinsCysThr
ENST00000685269.1:n.1749_1751delinsCAC
ENST00000686011.1:c.1659_1661delinsCAC ENSP00000509704.1:p.Trp553_Lys554delinsCysThr
ENST00000687109.1:c.1674_1676delinsCAC ENSP00000509371.1:p.Trp558_Lys559delinsCysThr
ENST00000687208.1:n.2086_2088delinsCAC
ENST00000687246.1:c.1659_1661delinsCAC ENSP00000509114.1:p.Trp553_Lys554delinsCysThr
ENST00000687265.1:n.1829_1831delinsCAC
ENST00000687295.1:c.1659_1661delinsCAC ENSP00000509450.1:p.Trp553_Lys554delinsCysThr
ENST00000689832.1:c.1674_1676delinsCAC ENSP00000509084.1:p.Trp558_Lys559delinsCysThr
ENST00000689994.1:c.1161_1163delinsCAC ENSP00000509156.1:p.Trp387_Lys388delinsCysThr
ENST00000690543.1:c.1662_1664delinsCAC ENSP00000508831.1:p.Trp554_Lys555delinsCysThr
ENST00000690917.1:n.1889_1891delinsCAC
ENST00000691361.1:n.581_583delinsCAC
ENST00000692783.1:c.1671_1673delinsCAC ENSP00000508733.1:p.Trp557_Lys558delinsCysThr
ENST00000692991.1:n.1768_1770delinsCAC
XM_005265740.1:c.1674_1676delinsCAC XP_005265797.1:p.Trp558_Lys559delinsCysThr
XM_005265741.1:c.1674_1676delinsCAC XP_005265798.1:p.Trp558_Lys559delinsCysThr
XM_005265742.1:c.1662_1664delinsCAC XP_005265799.1:p.Trp554_Lys555delinsCysThr
XM_005265742.3:c.1662_1664delinsCAC XP_005265799.1:p.Trp554_Lys555delinsCysThr
XM_017008178.1:c.1671_1673delinsCAC XP_016863667.1:p.Trp557_Lys558delinsCysThr
XM_017008179.1:c.1662_1664delinsCAC XP_016863668.1:p.Trp554_Lys555delinsCysThr
XM_017008180.1:c.1659_1661delinsCAC XP_016863669.1:p.Trp553_Lys554delinsCysThr