Canonical Allele Identifier: CA645516864

Gene: KIT

Linked Data

• ClinVar Variation Id: 523644
• ClinVar RCV Id: RCV000627073
• dbSNP Id: rs1553891755
• COSMIC: COSM36293
• MyVariant Identifiers: chr4:g.55593612_55593662del (hg19) ; chr4:g.54727446_54727496del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727446_54727496del , CM000666.2:g.54727446_54727496del	GRCh38
NC_000004.11:g.55593612_55593662del , CM000666.1:g.55593612_55593662del	GRCh37
NC_000004.10:g.55288369_55288419del	NCBI36
NG_007456.1:g.74452_74502del , LRG_307:g.74452_74502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1669_1719del	ENSP00000390987.3:p.Val557_Leu573del
ENST00000685269.1:n.1756_1806del
ENST00000686011.1:c.1666_1716del	ENSP00000509704.1:p.Val556_Leu572del
ENST00000687109.1:c.1681_1731del	ENSP00000509371.1:p.Val561_Leu577del
ENST00000687208.1:n.2093_2143del
ENST00000687246.1:c.1666_1716del	ENSP00000509114.1:p.Val556_Leu572del
ENST00000687265.1:n.1836_1886del
ENST00000687295.1:c.1666_1716del	ENSP00000509450.1:p.Val556_Leu572del
ENST00000689832.1:c.1681_1731del	ENSP00000509084.1:p.Val561_Leu577del
ENST00000689994.1:c.1168_1218del	ENSP00000509156.1:p.Val390_Leu406del
ENST00000690543.1:c.1669_1719del	ENSP00000508831.1:p.Val557_Leu573del
ENST00000690917.1:n.1896_1946del
ENST00000691361.1:n.588_638del
ENST00000692783.1:c.1678_1728del	ENSP00000508733.1:p.Val560_Leu576del
ENST00000692991.1:n.1775_1825del
ENST00000288135.6:c.1678_1728del MANE Select	ENSP00000288135.6:p.Val560_Leu576del
ENST00000288135.5:c.1678_1728del	ENSP00000288135.5:p.Val560_Leu576del
ENST00000412167.6:c.1666_1716del	ENSP00000390987.2:p.Val556_Leu572del
NM_000222.2:c.1678_1728del , LRG_307t1:c.1678_1728del	NP_000213.1:p.Val560_Leu576del
NM_001093772.1:c.1666_1716del	NP_001087241.1:p.Val556_Leu572del
XM_005265740.1:c.1681_1731del	XP_005265797.1:p.Val561_Leu577del
XM_005265741.1:c.1681_1731del	XP_005265798.1:p.Val561_Leu577del
XM_005265742.1:c.1669_1719del	XP_005265799.1:p.Val557_Leu573del
XM_005265742.3:c.1669_1719del	XP_005265799.1:p.Val557_Leu573del
XM_017008178.1:c.1678_1728del	XP_016863667.1:p.Val560_Leu576del
XM_017008179.1:c.1669_1719del	XP_016863668.1:p.Val557_Leu573del
XM_017008180.1:c.1666_1716del	XP_016863669.1:p.Val556_Leu572del
NM_000222.3:c.1678_1728del MANE Select	NP_000213.1:p.Val560_Leu576del
NM_001093772.2:c.1666_1716del	NP_001087241.1:p.Val556_Leu572del
NM_001385284.1:c.1681_1731del	NP_001372213.1:p.Val561_Leu577del
NM_001385285.1:c.1678_1728del	NP_001372214.1:p.Val560_Leu576del
NM_001385286.1:c.1666_1716del	NP_001372215.1:p.Val556_Leu572del
NM_001385288.1:c.1669_1719del	NP_001372217.1:p.Val557_Leu573del
NM_001385290.1:c.1681_1731del	NP_001372219.1:p.Val561_Leu577del
NM_001385292.1:c.1669_1719del	NP_001372221.1:p.Val557_Leu573del