Canonical Allele Identifier: CA645516804

Gene: KIT

Linked Data

• COSMIC: COSM1212

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727436_54727483del , CM000666.2:g.54727436_54727483del	GRCh38
NC_000004.11:g.55593602_55593649del , CM000666.1:g.55593602_55593649del	GRCh37
NC_000004.10:g.55288359_55288406del	NCBI36
NG_007456.1:g.74442_74489del , LRG_307:g.74442_74489del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1659_1706del	ENSP00000390987.3:p.Gln553_Asp569delinsHis
ENST00000685269.1:n.1746_1793del
ENST00000686011.1:c.1656_1703del	ENSP00000509704.1:p.Gln552_Asp568delinsHis
ENST00000687109.1:c.1671_1718del	ENSP00000509371.1:p.Gln557_Asp573delinsHis
ENST00000687208.1:n.2083_2130del
ENST00000687246.1:c.1656_1703del	ENSP00000509114.1:p.Gln552_Asp568delinsHis
ENST00000687265.1:n.1826_1873del
ENST00000687295.1:c.1656_1703del	ENSP00000509450.1:p.Gln552_Asp568delinsHis
ENST00000689832.1:c.1671_1718del	ENSP00000509084.1:p.Gln557_Asp573delinsHis
ENST00000689994.1:c.1158_1205del	ENSP00000509156.1:p.Gln386_Asp402delinsHis
ENST00000690543.1:c.1659_1706del	ENSP00000508831.1:p.Gln553_Asp569delinsHis
ENST00000690917.1:n.1886_1933del
ENST00000691361.1:n.578_625del
ENST00000692783.1:c.1668_1715del	ENSP00000508733.1:p.Gln556_Asp572delinsHis
ENST00000692991.1:n.1765_1812del
ENST00000288135.6:c.1668_1715del MANE Select	ENSP00000288135.6:p.Gln556_Asp572delinsHis
ENST00000288135.5:c.1668_1715del	ENSP00000288135.5:p.Gln556_Asp572delinsHis
ENST00000412167.6:c.1656_1703del	ENSP00000390987.2:p.Gln552_Asp568delinsHis
NM_000222.2:c.1668_1715del , LRG_307t1:c.1668_1715del	NP_000213.1:p.Gln556_Asp572delinsHis
NM_001093772.1:c.1656_1703del	NP_001087241.1:p.Gln552_Asp568delinsHis
XM_005265740.1:c.1671_1718del	XP_005265797.1:p.Gln557_Asp573delinsHis
XM_005265741.1:c.1671_1718del	XP_005265798.1:p.Gln557_Asp573delinsHis
XM_005265742.1:c.1659_1706del	XP_005265799.1:p.Gln553_Asp569delinsHis
XM_005265742.3:c.1659_1706del	XP_005265799.1:p.Gln553_Asp569delinsHis
XM_017008178.1:c.1668_1715del	XP_016863667.1:p.Gln556_Asp572delinsHis
XM_017008179.1:c.1659_1706del	XP_016863668.1:p.Gln553_Asp569delinsHis
XM_017008180.1:c.1656_1703del	XP_016863669.1:p.Gln552_Asp568delinsHis
NM_000222.3:c.1668_1715del MANE Select	NP_000213.1:p.Gln556_Asp572delinsHis
NM_001093772.2:c.1656_1703del	NP_001087241.1:p.Gln552_Asp568delinsHis
NM_001385284.1:c.1671_1718del	NP_001372213.1:p.Gln557_Asp573delinsHis
NM_001385285.1:c.1668_1715del	NP_001372214.1:p.Gln556_Asp572delinsHis
NM_001385286.1:c.1656_1703del	NP_001372215.1:p.Gln552_Asp568delinsHis
NM_001385288.1:c.1659_1706del	NP_001372217.1:p.Gln553_Asp569delinsHis
NM_001385290.1:c.1671_1718del	NP_001372219.1:p.Gln557_Asp573delinsHis
NM_001385292.1:c.1659_1706del	NP_001372221.1:p.Gln553_Asp569delinsHis