Canonical Allele Identifier: CA645516816
Gene: KIT HGNC NCBI

Linked Data

COSMIC: COSM1365

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727436_54727480del , CM000666.2:g.54727436_54727480del GRCh38
NC_000004.11:g.55593602_55593646del , CM000666.1:g.55593602_55593646del GRCh37
NC_000004.10:g.55288359_55288403del NCBI36
NG_007456.1:g.74442_74486del , LRG_307:g.74442_74486del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1659_1703del ENSP00000390987.3:p.Trp554_Ile568del
ENST00000685269.1:n.1746_1790del
ENST00000686011.1:c.1656_1700del ENSP00000509704.1:p.Trp553_Ile567del
ENST00000687109.1:c.1671_1715del ENSP00000509371.1:p.Trp558_Ile572del
ENST00000687208.1:n.2083_2127del
ENST00000687246.1:c.1656_1700del ENSP00000509114.1:p.Trp553_Ile567del
ENST00000687265.1:n.1826_1870del
ENST00000687295.1:c.1656_1700del ENSP00000509450.1:p.Trp553_Ile567del
ENST00000689832.1:c.1671_1715del ENSP00000509084.1:p.Trp558_Ile572del
ENST00000689994.1:c.1158_1202del ENSP00000509156.1:p.Trp387_Ile401del
ENST00000690543.1:c.1659_1703del ENSP00000508831.1:p.Trp554_Ile568del
ENST00000690917.1:n.1886_1930del
ENST00000691361.1:n.578_622del
ENST00000692783.1:c.1668_1712del ENSP00000508733.1:p.Trp557_Ile571del
ENST00000692991.1:n.1765_1809del
ENST00000288135.6:c.1668_1712del MANE Select ENSP00000288135.6:p.Trp557_Ile571del
ENST00000288135.5:c.1668_1712del ENSP00000288135.5:p.Trp557_Ile571del
ENST00000412167.6:c.1656_1700del ENSP00000390987.2:p.Trp553_Ile567del
NM_000222.2:c.1668_1712del , LRG_307t1:c.1668_1712del NP_000213.1:p.Trp557_Ile571del
NM_001093772.1:c.1656_1700del NP_001087241.1:p.Trp553_Ile567del
XM_005265740.1:c.1671_1715del XP_005265797.1:p.Trp558_Ile572del
XM_005265741.1:c.1671_1715del XP_005265798.1:p.Trp558_Ile572del
XM_005265742.1:c.1659_1703del XP_005265799.1:p.Trp554_Ile568del
XM_005265742.3:c.1659_1703del XP_005265799.1:p.Trp554_Ile568del
XM_017008178.1:c.1668_1712del XP_016863667.1:p.Trp557_Ile571del
XM_017008179.1:c.1659_1703del XP_016863668.1:p.Trp554_Ile568del
XM_017008180.1:c.1656_1700del XP_016863669.1:p.Trp553_Ile567del
NM_000222.3:c.1668_1712del MANE Select NP_000213.1:p.Trp557_Ile571del
NM_001093772.2:c.1656_1700del NP_001087241.1:p.Trp553_Ile567del
NM_001385284.1:c.1671_1715del NP_001372213.1:p.Trp558_Ile572del
NM_001385285.1:c.1668_1712del NP_001372214.1:p.Trp557_Ile571del
NM_001385286.1:c.1656_1700del NP_001372215.1:p.Trp553_Ile567del
NM_001385288.1:c.1659_1703del NP_001372217.1:p.Trp554_Ile568del
NM_001385290.1:c.1671_1715del NP_001372219.1:p.Trp558_Ile572del
NM_001385292.1:c.1659_1703del NP_001372221.1:p.Trp554_Ile568del