Canonical Allele Identifier: CA1458744571

Gene: KIT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733473_54733475delinsGAA , CM000666.2:g.54733473_54733475delinsGAA	GRCh38
NC_000004.11:g.55599639_55599641delinsGAA , CM000666.1:g.55599639_55599641delinsGAA	GRCh37
NC_000004.10:g.55294396_55294398delinsGAA	NCBI36
NG_007456.1:g.80479_80481delinsGAA , LRG_307:g.80479_80481delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2472+281_2472+283delinsGAA	ENSP00000390987.3:n.2472+281_2472+283delinsGAA
ENST00000685269.1:n.2562+281_2562+283delinsGAA
ENST00000686011.1:c.2469+281_2469+283delinsGAA	ENSP00000509704.1:n.2469+281_2469+283delinsGAA
ENST00000687109.1:c.2487+281_2487+283delinsGAA	ENSP00000509371.1:n.2487+281_2487+283delinsGAA
ENST00000687208.1:n.2896+281_2896+283delinsGAA
ENST00000687246.1:c.2349+1475_2349+1477delinsGAA	ENSP00000509114.1:n.2349+1475_2349+1477delinsGAA
ENST00000687265.1:n.2642+281_2642+283delinsGAA
ENST00000687295.1:c.2472+281_2472+283delinsGAA	ENSP00000509450.1:n.2472+281_2472+283delinsGAA
ENST00000688060.1:n.281+281_281+283delinsGAA
ENST00000688704.1:n.1777_1779delinsGAA
ENST00000689832.1:c.2484+281_2484+283delinsGAA	ENSP00000509084.1:n.2484+281_2484+283delinsGAA
ENST00000689994.1:c.1974+281_1974+283delinsGAA	ENSP00000509156.1:n.1974+281_1974+283delinsGAA
ENST00000690543.1:c.2475+281_2475+283delinsGAA	ENSP00000508831.1:n.2475+281_2475+283delinsGAA
ENST00000690917.1:n.2702+281_2702+283delinsGAA
ENST00000691361.1:n.1394+281_1394+283delinsGAA
ENST00000692783.1:c.2481+281_2481+283delinsGAA	ENSP00000508733.1:n.2481+281_2481+283delinsGAA
ENST00000692991.1:n.2581+281_2581+283delinsGAA
ENST00000288135.6:c.2484+281_2484+283delinsGAA MANE Select	ENSP00000288135.6:n.2484+281_2484+283delinsGAA
ENST00000288135.5:c.2484+281_2484+283delinsGAA	ENSP00000288135.5:n.2484+281_2484+283delinsGAA
ENST00000412167.6:c.2472+281_2472+283delinsGAA	ENSP00000390987.2:n.2472+281_2472+283delinsGAA
NM_000222.2:c.2484+281_2484+283delinsGAA , LRG_307t1:c.2484+281_2484+283delinsGAA	NP_000213.1:n.2484+281_2484+283delinsGAA
NM_001093772.1:c.2472+281_2472+283delinsGAA	NP_001087241.1:n.2472+281_2472+283delinsGAA
XM_005265740.1:c.2487+281_2487+283delinsGAA	XP_005265797.1:n.2487+281_2487+283delinsGAA
XM_005265741.1:c.2484+281_2484+283delinsGAA	XP_005265798.1:n.2484+281_2484+283delinsGAA
XM_005265742.1:c.2475+281_2475+283delinsGAA	XP_005265799.1:n.2475+281_2475+283delinsGAA
XM_005265742.3:c.2475+281_2475+283delinsGAA	XP_005265799.1:n.2475+281_2475+283delinsGAA
XM_017008178.1:c.2481+281_2481+283delinsGAA	XP_016863667.1:n.2481+281_2481+283delinsGAA
XM_017008179.1:c.2472+281_2472+283delinsGAA	XP_016863668.1:n.2472+281_2472+283delinsGAA
XM_017008180.1:c.2469+281_2469+283delinsGAA	XP_016863669.1:n.2469+281_2469+283delinsGAA
NM_000222.3:c.2484+281_2484+283delinsGAA MANE Select	NP_000213.1:n.2484+281_2484+283delinsGAA
NM_001093772.2:c.2472+281_2472+283delinsGAA	NP_001087241.1:n.2472+281_2472+283delinsGAA
NM_001385284.1:c.2487+281_2487+283delinsGAA	NP_001372213.1:n.2487+281_2487+283delinsGAA
NM_001385285.1:c.2481+281_2481+283delinsGAA	NP_001372214.1:n.2481+281_2481+283delinsGAA
NM_001385286.1:c.2469+281_2469+283delinsGAA	NP_001372215.1:n.2469+281_2469+283delinsGAA
NM_001385288.1:c.2475+281_2475+283delinsGAA	NP_001372217.1:n.2475+281_2475+283delinsGAA
NM_001385290.1:c.2484+281_2484+283delinsGAA	NP_001372219.1:n.2484+281_2484+283delinsGAA
NM_001385292.1:c.2472+281_2472+283delinsGAA	NP_001372221.1:n.2472+281_2472+283delinsGAA