Canonical Allele Identifier: CA645516852
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs2109776181
COSMIC: COSM21976

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727441_54727442insTCC , CM000666.2:g.54727441_54727442insTCC GRCh38
NC_000004.11:g.55593607_55593608insTCC , CM000666.1:g.55593607_55593608insTCC GRCh37
NC_000004.10:g.55288364_55288365insTCC NCBI36
NG_007456.1:g.74447_74448insTCC , LRG_307:g.74447_74448insTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1664_1665insTCC ENSP00000390987.3:p.Lys555delinsAsnPro
ENST00000685269.1:n.1751_1752insTCC
ENST00000686011.1:c.1661_1662insTCC ENSP00000509704.1:p.Lys554delinsAsnPro
ENST00000687109.1:c.1676_1677insTCC ENSP00000509371.1:p.Lys559delinsAsnPro
ENST00000687208.1:n.2088_2089insTCC
ENST00000687246.1:c.1661_1662insTCC ENSP00000509114.1:p.Lys554delinsAsnPro
ENST00000687265.1:n.1831_1832insTCC
ENST00000687295.1:c.1661_1662insTCC ENSP00000509450.1:p.Lys554delinsAsnPro
ENST00000689832.1:c.1676_1677insTCC ENSP00000509084.1:p.Lys559delinsAsnPro
ENST00000689994.1:c.1163_1164insTCC ENSP00000509156.1:p.Lys388delinsAsnPro
ENST00000690543.1:c.1664_1665insTCC ENSP00000508831.1:p.Lys555delinsAsnPro
ENST00000690917.1:n.1891_1892insTCC
ENST00000691361.1:n.583_584insTCC
ENST00000692783.1:c.1673_1674insTCC ENSP00000508733.1:p.Lys558delinsAsnPro
ENST00000692991.1:n.1770_1771insTCC
ENST00000288135.6:c.1673_1674insTCC MANE Select ENSP00000288135.6:p.Lys558delinsAsnPro
ENST00000288135.5:c.1673_1674insTCC ENSP00000288135.5:p.Lys558delinsAsnPro
ENST00000412167.6:c.1661_1662insTCC ENSP00000390987.2:p.Lys554delinsAsnPro
NM_000222.2:c.1673_1674insTCC , LRG_307t1:c.1673_1674insTCC NP_000213.1:p.Lys558delinsAsnPro
NM_001093772.1:c.1661_1662insTCC NP_001087241.1:p.Lys554delinsAsnPro
XM_005265740.1:c.1676_1677insTCC XP_005265797.1:p.Lys559delinsAsnPro
XM_005265741.1:c.1676_1677insTCC XP_005265798.1:p.Lys559delinsAsnPro
XM_005265742.1:c.1664_1665insTCC XP_005265799.1:p.Lys555delinsAsnPro
XM_005265742.3:c.1664_1665insTCC XP_005265799.1:p.Lys555delinsAsnPro
XM_017008178.1:c.1673_1674insTCC XP_016863667.1:p.Lys558delinsAsnPro
XM_017008179.1:c.1664_1665insTCC XP_016863668.1:p.Lys555delinsAsnPro
XM_017008180.1:c.1661_1662insTCC XP_016863669.1:p.Lys554delinsAsnPro
NM_000222.3:c.1673_1674insTCC MANE Select NP_000213.1:p.Lys558delinsAsnPro
NM_001093772.2:c.1661_1662insTCC NP_001087241.1:p.Lys554delinsAsnPro
NM_001385284.1:c.1676_1677insTCC NP_001372213.1:p.Lys559delinsAsnPro
NM_001385285.1:c.1673_1674insTCC NP_001372214.1:p.Lys558delinsAsnPro
NM_001385286.1:c.1661_1662insTCC NP_001372215.1:p.Lys554delinsAsnPro
NM_001385288.1:c.1664_1665insTCC NP_001372217.1:p.Lys555delinsAsnPro
NM_001385290.1:c.1676_1677insTCC NP_001372219.1:p.Lys559delinsAsnPro
NM_001385292.1:c.1664_1665insTCC NP_001372221.1:p.Lys555delinsAsnPro