Canonical Allele Identifier: CA913189821
Community Standard Title: NM_000222.3(KIT):c.1665_1672delinsCC (p.Trp557_Lys558del)
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727433_54727440delinsCC , CM000666.2:g.54727433_54727440delinsCC GRCh38
NC_000004.11:g.55593599_55593606delinsCC , CM000666.1:g.55593599_55593606delinsCC GRCh37
NC_000004.10:g.55288356_55288363delinsCC NCBI36
NG_007456.1:g.74439_74446delinsCC , LRG_307:g.74439_74446delinsCC

Transcript Alleles

HGVS Amino-acid Change
NM_000222.3:c.1665_1672delinsCC MANE Select NP_000213.1:p.Trp557_Lys558del
ENST00000288135.6:c.1665_1672delinsCC MANE Select ENSP00000288135.6:p.Trp557_Lys558del
NM_000222.2:c.1665_1672delinsCC , LRG_307t1:c.1665_1672delinsCC NP_000213.1:p.Trp557_Lys558del
NM_001093772.1:c.1653_1660delinsCC NP_001087241.1:p.Trp553_Lys554del
NM_001093772.2:c.1653_1660delinsCC NP_001087241.1:p.Trp553_Lys554del
NM_001385284.1:c.1668_1675delinsCC NP_001372213.1:p.Trp558_Lys559del
NM_001385285.1:c.1665_1672delinsCC NP_001372214.1:p.Trp557_Lys558del
NM_001385286.1:c.1653_1660delinsCC NP_001372215.1:p.Trp553_Lys554del
NM_001385288.1:c.1656_1663delinsCC NP_001372217.1:p.Trp554_Lys555del
NM_001385290.1:c.1668_1675delinsCC NP_001372219.1:p.Trp558_Lys559del
NM_001385292.1:c.1656_1663delinsCC NP_001372221.1:p.Trp554_Lys555del
ENST00000288135.5:c.1665_1672delinsCC ENSP00000288135.5:p.Trp557_Lys558del
ENST00000412167.6:c.1653_1660delinsCC ENSP00000390987.2:p.Trp553_Lys554del
ENST00000412167.7:c.1656_1663delinsCC ENSP00000390987.3:p.Trp554_Lys555del
ENST00000685269.1:n.1743_1750delinsCC
ENST00000686011.1:c.1653_1660delinsCC ENSP00000509704.1:p.Trp553_Lys554del
ENST00000687109.1:c.1668_1675delinsCC ENSP00000509371.1:p.Trp558_Lys559del
ENST00000687208.1:n.2080_2087delinsCC
ENST00000687246.1:c.1653_1660delinsCC ENSP00000509114.1:p.Trp553_Lys554del
ENST00000687265.1:n.1823_1830delinsCC
ENST00000687295.1:c.1653_1660delinsCC ENSP00000509450.1:p.Trp553_Lys554del
ENST00000689832.1:c.1668_1675delinsCC ENSP00000509084.1:p.Trp558_Lys559del
ENST00000689994.1:c.1155_1162delinsCC ENSP00000509156.1:p.Trp387_Lys388del
ENST00000690543.1:c.1656_1663delinsCC ENSP00000508831.1:p.Trp554_Lys555del
ENST00000690917.1:n.1883_1890delinsCC
ENST00000691361.1:n.575_582delinsCC
ENST00000692783.1:c.1665_1672delinsCC ENSP00000508733.1:p.Trp557_Lys558del
ENST00000692991.1:n.1762_1769delinsCC
XM_005265740.1:c.1668_1675delinsCC XP_005265797.1:p.Trp558_Lys559del
XM_005265741.1:c.1668_1675delinsCC XP_005265798.1:p.Trp558_Lys559del
XM_005265742.1:c.1656_1663delinsCC XP_005265799.1:p.Trp554_Lys555del
XM_005265742.3:c.1656_1663delinsCC XP_005265799.1:p.Trp554_Lys555del
XM_017008178.1:c.1665_1672delinsCC XP_016863667.1:p.Trp557_Lys558del
XM_017008179.1:c.1656_1663delinsCC XP_016863668.1:p.Trp554_Lys555del
XM_017008180.1:c.1653_1660delinsCC XP_016863669.1:p.Trp553_Lys554del