Canonical Allele Identifier: CA645516829
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs2109776076

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727440_54727442del , CM000666.2:g.54727440_54727442del GRCh38
NC_000004.11:g.55593606_55593608del , CM000666.1:g.55593606_55593608del GRCh37
NC_000004.10:g.55288363_55288365del NCBI36
NG_007456.1:g.74446_74448del , LRG_307:g.74446_74448del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1663_1665del ENSP00000390987.3:p.Lys555del
ENST00000685269.1:n.1750_1752del
ENST00000686011.1:c.1660_1662del ENSP00000509704.1:p.Lys554del
ENST00000687109.1:c.1675_1677del ENSP00000509371.1:p.Lys559del
ENST00000687208.1:n.2087_2089del
ENST00000687246.1:c.1660_1662del ENSP00000509114.1:p.Lys554del
ENST00000687265.1:n.1830_1832del
ENST00000687295.1:c.1660_1662del ENSP00000509450.1:p.Lys554del
ENST00000689832.1:c.1675_1677del ENSP00000509084.1:p.Lys559del
ENST00000689994.1:c.1162_1164del ENSP00000509156.1:p.Lys388del
ENST00000690543.1:c.1663_1665del ENSP00000508831.1:p.Lys555del
ENST00000690917.1:n.1890_1892del
ENST00000691361.1:n.582_584del
ENST00000692783.1:c.1672_1674del ENSP00000508733.1:p.Lys558del
ENST00000692991.1:n.1769_1771del
ENST00000288135.6:c.1672_1674del MANE Select ENSP00000288135.6:p.Lys558del
ENST00000288135.5:c.1672_1674del ENSP00000288135.5:p.Lys558del
ENST00000412167.6:c.1660_1662del ENSP00000390987.2:p.Lys554del
NM_000222.2:c.1672_1674del , LRG_307t1:c.1672_1674del NP_000213.1:p.Lys558del
NM_001093772.1:c.1660_1662del NP_001087241.1:p.Lys554del
XM_005265740.1:c.1675_1677del XP_005265797.1:p.Lys559del
XM_005265741.1:c.1675_1677del XP_005265798.1:p.Lys559del
XM_005265742.1:c.1663_1665del XP_005265799.1:p.Lys555del
XM_005265742.3:c.1663_1665del XP_005265799.1:p.Lys555del
XM_017008178.1:c.1672_1674del XP_016863667.1:p.Lys558del
XM_017008179.1:c.1663_1665del XP_016863668.1:p.Lys555del
XM_017008180.1:c.1660_1662del XP_016863669.1:p.Lys554del
NM_000222.3:c.1672_1674del MANE Select NP_000213.1:p.Lys558del
NM_001093772.2:c.1660_1662del NP_001087241.1:p.Lys554del
NM_001385284.1:c.1675_1677del NP_001372213.1:p.Lys559del
NM_001385285.1:c.1672_1674del NP_001372214.1:p.Lys558del
NM_001385286.1:c.1660_1662del NP_001372215.1:p.Lys554del
NM_001385288.1:c.1663_1665del NP_001372217.1:p.Lys555del
NM_001385290.1:c.1675_1677del NP_001372219.1:p.Lys559del
NM_001385292.1:c.1663_1665del NP_001372221.1:p.Lys555del