Canonical Allele Identifier: CA2499306848

Gene: KIT

Linked Data

• ClinVar Variation Id: 1625055
• ClinVar RCV Id: RCV002106561
• dbSNP Id: rs2109802162
• gnomAD v4: 4-54733199-ACCCATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733201_54733206del , CM000666.2:g.54733201_54733206del	GRCh38
NC_000004.11:g.55599367_55599372del , CM000666.1:g.55599367_55599372del	GRCh37
NC_000004.10:g.55294124_55294129del	NCBI36
NG_007456.1:g.80207_80212del , LRG_307:g.80207_80212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2472+9_2472+14del	ENSP00000390987.3:n.2472+9_2472+14del
ENST00000685269.1:n.2562+9_2562+14del
ENST00000686011.1:c.2469+9_2469+14del	ENSP00000509704.1:n.2469+9_2469+14del
ENST00000687109.1:c.2487+9_2487+14del	ENSP00000509371.1:n.2487+9_2487+14del
ENST00000687208.1:n.2896+9_2896+14del
ENST00000687246.1:c.2349+1203_2349+1208del	ENSP00000509114.1:n.2349+1203_2349+1208del
ENST00000687265.1:n.2642+9_2642+14del
ENST00000687295.1:c.2472+9_2472+14del	ENSP00000509450.1:n.2472+9_2472+14del
ENST00000688060.1:n.281+9_281+14del
ENST00000688704.1:n.1505_1510del
ENST00000689832.1:c.2484+9_2484+14del	ENSP00000509084.1:n.2484+9_2484+14del
ENST00000689994.1:c.1974+9_1974+14del	ENSP00000509156.1:n.1974+9_1974+14del
ENST00000690543.1:c.2475+9_2475+14del	ENSP00000508831.1:n.2475+9_2475+14del
ENST00000690917.1:n.2702+9_2702+14del
ENST00000691361.1:n.1394+9_1394+14del
ENST00000692783.1:c.2481+9_2481+14del	ENSP00000508733.1:n.2481+9_2481+14del
ENST00000692991.1:n.2581+9_2581+14del
ENST00000288135.6:c.2484+9_2484+14del MANE Select	ENSP00000288135.6:n.2484+9_2484+14del
ENST00000288135.5:c.2484+9_2484+14del	ENSP00000288135.5:n.2484+9_2484+14del
ENST00000412167.6:c.2472+9_2472+14del	ENSP00000390987.2:n.2472+9_2472+14del
ENST00000512959.1:n.546_551del
NM_000222.2:c.2484+9_2484+14del , LRG_307t1:c.2484+9_2484+14del	NP_000213.1:n.2484+9_2484+14del
NM_001093772.1:c.2472+9_2472+14del	NP_001087241.1:n.2472+9_2472+14del
XM_005265740.1:c.2487+9_2487+14del	XP_005265797.1:n.2487+9_2487+14del
XM_005265741.1:c.2484+9_2484+14del	XP_005265798.1:n.2484+9_2484+14del
XM_005265742.1:c.2475+9_2475+14del	XP_005265799.1:n.2475+9_2475+14del
XM_005265742.3:c.2475+9_2475+14del	XP_005265799.1:n.2475+9_2475+14del
XM_017008178.1:c.2481+9_2481+14del	XP_016863667.1:n.2481+9_2481+14del
XM_017008179.1:c.2472+9_2472+14del	XP_016863668.1:n.2472+9_2472+14del
XM_017008180.1:c.2469+9_2469+14del	XP_016863669.1:n.2469+9_2469+14del
NM_000222.3:c.2484+9_2484+14del MANE Select	NP_000213.1:n.2484+9_2484+14del
NM_001093772.2:c.2472+9_2472+14del	NP_001087241.1:n.2472+9_2472+14del
NM_001385284.1:c.2487+9_2487+14del	NP_001372213.1:n.2487+9_2487+14del
NM_001385285.1:c.2481+9_2481+14del	NP_001372214.1:n.2481+9_2481+14del
NM_001385286.1:c.2469+9_2469+14del	NP_001372215.1:n.2469+9_2469+14del
NM_001385288.1:c.2475+9_2475+14del	NP_001372217.1:n.2475+9_2475+14del
NM_001385290.1:c.2484+9_2484+14del	NP_001372219.1:n.2484+9_2484+14del
NM_001385292.1:c.2472+9_2472+14del	NP_001372221.1:n.2472+9_2472+14del