Canonical Allele Identifier: CA913189819

Gene: KIT

Linked Data

• ClinVar Variation Id: 627637
• ClinVar RCV Id: RCV000771008
• dbSNP Id: rs1560417385

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727420_54727440del , CM000666.2:g.54727420_54727440del	GRCh38
NC_000004.11:g.55593586_55593606del , CM000666.1:g.55593586_55593606del	GRCh37
NC_000004.10:g.55288343_55288363del	NCBI36
NG_007456.1:g.74426_74446del , LRG_307:g.74426_74446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1643_1663del	ENSP00000390987.3:p.Pro548_Lys555delinsGln
ENST00000685269.1:n.1730_1750del
ENST00000686011.1:c.1640_1660del	ENSP00000509704.1:p.Pro547_Lys554delinsGln
ENST00000687109.1:c.1655_1675del	ENSP00000509371.1:p.Pro552_Lys559delinsGln
ENST00000687208.1:n.2067_2087del
ENST00000687246.1:c.1640_1660del	ENSP00000509114.1:p.Pro547_Lys554delinsGln
ENST00000687265.1:n.1810_1830del
ENST00000687295.1:c.1640_1660del	ENSP00000509450.1:p.Pro547_Lys554delinsGln
ENST00000689832.1:c.1655_1675del	ENSP00000509084.1:p.Pro552_Lys559delinsGln
ENST00000689994.1:c.1142_1162del	ENSP00000509156.1:p.Pro381_Lys388delinsGln
ENST00000690543.1:c.1643_1663del	ENSP00000508831.1:p.Pro548_Lys555delinsGln
ENST00000690917.1:n.1870_1890del
ENST00000691361.1:n.562_582del
ENST00000692783.1:c.1652_1672del	ENSP00000508733.1:p.Pro551_Lys558delinsGln
ENST00000692991.1:n.1749_1769del
ENST00000288135.6:c.1652_1672del MANE Select	ENSP00000288135.6:p.Pro551_Lys558delinsGln
ENST00000288135.5:c.1652_1672del	ENSP00000288135.5:p.Pro551_Lys558delinsGln
ENST00000412167.6:c.1640_1660del	ENSP00000390987.2:p.Pro547_Lys554delinsGln
NM_000222.2:c.1652_1672del , LRG_307t1:c.1652_1672del	NP_000213.1:p.Pro551_Lys558delinsGln
NM_001093772.1:c.1640_1660del	NP_001087241.1:p.Pro547_Lys554delinsGln
XM_005265740.1:c.1655_1675del	XP_005265797.1:p.Pro552_Lys559delinsGln
XM_005265741.1:c.1655_1675del	XP_005265798.1:p.Pro552_Lys559delinsGln
XM_005265742.1:c.1643_1663del	XP_005265799.1:p.Pro548_Lys555delinsGln
XM_005265742.3:c.1643_1663del	XP_005265799.1:p.Pro548_Lys555delinsGln
XM_017008178.1:c.1652_1672del	XP_016863667.1:p.Pro551_Lys558delinsGln
XM_017008179.1:c.1643_1663del	XP_016863668.1:p.Pro548_Lys555delinsGln
XM_017008180.1:c.1640_1660del	XP_016863669.1:p.Pro547_Lys554delinsGln
NM_000222.3:c.1652_1672del MANE Select	NP_000213.1:p.Pro551_Lys558delinsGln
NM_001093772.2:c.1640_1660del	NP_001087241.1:p.Pro547_Lys554delinsGln
NM_001385284.1:c.1655_1675del	NP_001372213.1:p.Pro552_Lys559delinsGln
NM_001385285.1:c.1652_1672del	NP_001372214.1:p.Pro551_Lys558delinsGln
NM_001385286.1:c.1640_1660del	NP_001372215.1:p.Pro547_Lys554delinsGln
NM_001385288.1:c.1643_1663del	NP_001372217.1:p.Pro548_Lys555delinsGln
NM_001385290.1:c.1655_1675del	NP_001372219.1:p.Pro552_Lys559delinsGln
NM_001385292.1:c.1643_1663del	NP_001372221.1:p.Pro548_Lys555delinsGln