Canonical Allele Identifier: CA913189823

Gene: KIT

Linked Data

• ClinVar Variation Id: 627641
• ClinVar RCV Id: RCV000771012
• dbSNP Id: rs1560417535

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727444_54727488del , CM000666.2:g.54727444_54727488del	GRCh38
NC_000004.11:g.55593610_55593654del , CM000666.1:g.55593610_55593654del	GRCh37
NC_000004.10:g.55288367_55288411del	NCBI36
NG_007456.1:g.74450_74494del , LRG_307:g.74450_74494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1667_1711del	ENSP00000390987.3:p.Val556_Thr571delinsAla
ENST00000685269.1:n.1754_1798del
ENST00000686011.1:c.1664_1708del	ENSP00000509704.1:p.Val555_Thr570delinsAla
ENST00000687109.1:c.1679_1723del	ENSP00000509371.1:p.Val560_Thr575delinsAla
ENST00000687208.1:n.2091_2135del
ENST00000687246.1:c.1664_1708del	ENSP00000509114.1:p.Val555_Thr570delinsAla
ENST00000687265.1:n.1834_1878del
ENST00000687295.1:c.1664_1708del	ENSP00000509450.1:p.Val555_Thr570delinsAla
ENST00000689832.1:c.1679_1723del	ENSP00000509084.1:p.Val560_Thr575delinsAla
ENST00000689994.1:c.1166_1210del	ENSP00000509156.1:p.Val389_Thr404delinsAla
ENST00000690543.1:c.1667_1711del	ENSP00000508831.1:p.Val556_Thr571delinsAla
ENST00000690917.1:n.1894_1938del
ENST00000691361.1:n.586_630del
ENST00000692783.1:c.1676_1720del	ENSP00000508733.1:p.Val559_Thr574delinsAla
ENST00000692991.1:n.1773_1817del
ENST00000288135.6:c.1676_1720del MANE Select	ENSP00000288135.6:p.Val559_Thr574delinsAla
ENST00000288135.5:c.1676_1720del	ENSP00000288135.5:p.Val559_Thr574delinsAla
ENST00000412167.6:c.1664_1708del	ENSP00000390987.2:p.Val555_Thr570delinsAla
NM_000222.2:c.1676_1720del , LRG_307t1:c.1676_1720del	NP_000213.1:p.Val559_Thr574delinsAla
NM_001093772.1:c.1664_1708del	NP_001087241.1:p.Val555_Thr570delinsAla
XM_005265740.1:c.1679_1723del	XP_005265797.1:p.Val560_Thr575delinsAla
XM_005265741.1:c.1679_1723del	XP_005265798.1:p.Val560_Thr575delinsAla
XM_005265742.1:c.1667_1711del	XP_005265799.1:p.Val556_Thr571delinsAla
XM_005265742.3:c.1667_1711del	XP_005265799.1:p.Val556_Thr571delinsAla
XM_017008178.1:c.1676_1720del	XP_016863667.1:p.Val559_Thr574delinsAla
XM_017008179.1:c.1667_1711del	XP_016863668.1:p.Val556_Thr571delinsAla
XM_017008180.1:c.1664_1708del	XP_016863669.1:p.Val555_Thr570delinsAla
NM_000222.3:c.1676_1720del MANE Select	NP_000213.1:p.Val559_Thr574delinsAla
NM_001093772.2:c.1664_1708del	NP_001087241.1:p.Val555_Thr570delinsAla
NM_001385284.1:c.1679_1723del	NP_001372213.1:p.Val560_Thr575delinsAla
NM_001385285.1:c.1676_1720del	NP_001372214.1:p.Val559_Thr574delinsAla
NM_001385286.1:c.1664_1708del	NP_001372215.1:p.Val555_Thr570delinsAla
NM_001385288.1:c.1667_1711del	NP_001372217.1:p.Val556_Thr571delinsAla
NM_001385290.1:c.1679_1723del	NP_001372219.1:p.Val560_Thr575delinsAla
NM_001385292.1:c.1667_1711del	NP_001372221.1:p.Val556_Thr571delinsAla