Canonical Allele Identifier: CA645516849
Community Standard Title: NM_000222.3(KIT):c.1674_1677delinsCAAC (p.Lys558_Val559delinsAsnAsn)
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727442_54727445delinsCAAC , CM000666.2:g.54727442_54727445delinsCAAC GRCh38
NC_000004.11:g.55593608_55593611delinsCAAC , CM000666.1:g.55593608_55593611delinsCAAC GRCh37
NC_000004.10:g.55288365_55288368delinsCAAC NCBI36
NG_007456.1:g.74448_74451delinsCAAC , LRG_307:g.74448_74451delinsCAAC

Transcript Alleles

HGVS Amino-acid Change
NM_000222.3:c.1674_1677delinsCAAC MANE Select NP_000213.1:p.Lys558_Val559delinsAsnAsn
ENST00000288135.6:c.1674_1677delinsCAAC MANE Select ENSP00000288135.6:p.Lys558_Val559delinsAsnAsn
NM_000222.2:c.1674_1677delinsCAAC , LRG_307t1:c.1674_1677delinsCAAC NP_000213.1:p.Lys558_Val559delinsAsnAsn
NM_001093772.1:c.1662_1665delinsCAAC NP_001087241.1:p.Lys554_Val555delinsAsnAsn
NM_001093772.2:c.1662_1665delinsCAAC NP_001087241.1:p.Lys554_Val555delinsAsnAsn
NM_001385284.1:c.1677_1680delinsCAAC NP_001372213.1:p.Lys559_Val560delinsAsnAsn
NM_001385285.1:c.1674_1677delinsCAAC NP_001372214.1:p.Lys558_Val559delinsAsnAsn
NM_001385286.1:c.1662_1665delinsCAAC NP_001372215.1:p.Lys554_Val555delinsAsnAsn
NM_001385288.1:c.1665_1668delinsCAAC NP_001372217.1:p.Lys555_Val556delinsAsnAsn
NM_001385290.1:c.1677_1680delinsCAAC NP_001372219.1:p.Lys559_Val560delinsAsnAsn
NM_001385292.1:c.1665_1668delinsCAAC NP_001372221.1:p.Lys555_Val556delinsAsnAsn
ENST00000288135.5:c.1674_1677delinsCAAC ENSP00000288135.5:p.Lys558_Val559delinsAsnAsn
ENST00000412167.6:c.1662_1665delinsCAAC ENSP00000390987.2:p.Lys554_Val555delinsAsnAsn
ENST00000412167.7:c.1665_1668delinsCAAC ENSP00000390987.3:p.Lys555_Val556delinsAsnAsn
ENST00000685269.1:n.1752_1755delinsCAAC
ENST00000686011.1:c.1662_1665delinsCAAC ENSP00000509704.1:p.Lys554_Val555delinsAsnAsn
ENST00000687109.1:c.1677_1680delinsCAAC ENSP00000509371.1:p.Lys559_Val560delinsAsnAsn
ENST00000687208.1:n.2089_2092delinsCAAC
ENST00000687246.1:c.1662_1665delinsCAAC ENSP00000509114.1:p.Lys554_Val555delinsAsnAsn
ENST00000687265.1:n.1832_1835delinsCAAC
ENST00000687295.1:c.1662_1665delinsCAAC ENSP00000509450.1:p.Lys554_Val555delinsAsnAsn
ENST00000689832.1:c.1677_1680delinsCAAC ENSP00000509084.1:p.Lys559_Val560delinsAsnAsn
ENST00000689994.1:c.1164_1167delinsCAAC ENSP00000509156.1:p.Lys388_Val389delinsAsnAsn
ENST00000690543.1:c.1665_1668delinsCAAC ENSP00000508831.1:p.Lys555_Val556delinsAsnAsn
ENST00000690917.1:n.1892_1895delinsCAAC
ENST00000691361.1:n.584_587delinsCAAC
ENST00000692783.1:c.1674_1677delinsCAAC ENSP00000508733.1:p.Lys558_Val559delinsAsnAsn
ENST00000692991.1:n.1771_1774delinsCAAC
XM_005265740.1:c.1677_1680delinsCAAC XP_005265797.1:p.Lys559_Val560delinsAsnAsn
XM_005265741.1:c.1677_1680delinsCAAC XP_005265798.1:p.Lys559_Val560delinsAsnAsn
XM_005265742.1:c.1665_1668delinsCAAC XP_005265799.1:p.Lys555_Val556delinsAsnAsn
XM_005265742.3:c.1665_1668delinsCAAC XP_005265799.1:p.Lys555_Val556delinsAsnAsn
XM_017008178.1:c.1674_1677delinsCAAC XP_016863667.1:p.Lys558_Val559delinsAsnAsn
XM_017008179.1:c.1665_1668delinsCAAC XP_016863668.1:p.Lys555_Val556delinsAsnAsn
XM_017008180.1:c.1662_1665delinsCAAC XP_016863669.1:p.Lys554_Val555delinsAsnAsn