Canonical Allele Identifier: CA2761703175

Gene: KIT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733475_54733476insAATTAAGG , CM000666.2:g.54733475_54733476insAATTAAGG	GRCh38
NC_000004.11:g.55599641_55599642insAATTAAGG , CM000666.1:g.55599641_55599642insAATTAAGG	GRCh37
NC_000004.10:g.55294398_55294399insAATTAAGG	NCBI36
NG_007456.1:g.80481_80482insAATTAAGG , LRG_307:g.80481_80482insAATTAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2472+283_2472+284insAATTAAGG	ENSP00000390987.3:n.2472+283_2472+284insAATTAAGG
ENST00000685269.1:n.2562+283_2562+284insAATTAAGG
ENST00000686011.1:c.2469+283_2469+284insAATTAAGG	ENSP00000509704.1:n.2469+283_2469+284insAATTAAGG
ENST00000687109.1:c.2487+283_2487+284insAATTAAGG	ENSP00000509371.1:n.2487+283_2487+284insAATTAAGG
ENST00000687208.1:n.2896+283_2896+284insAATTAAGG
ENST00000687246.1:c.2349+1477_2349+1478insAATTAAGG	ENSP00000509114.1:n.2349+1477_2349+1478insAATTAAGG
ENST00000687265.1:n.2642+283_2642+284insAATTAAGG
ENST00000687295.1:c.2472+283_2472+284insAATTAAGG	ENSP00000509450.1:n.2472+283_2472+284insAATTAAGG
ENST00000688060.1:n.281+283_281+284insAATTAAGG
ENST00000688704.1:n.1779_1780insAATTAAGG
ENST00000689832.1:c.2484+283_2484+284insAATTAAGG	ENSP00000509084.1:n.2484+283_2484+284insAATTAAGG
ENST00000689994.1:c.1974+283_1974+284insAATTAAGG	ENSP00000509156.1:n.1974+283_1974+284insAATTAAGG
ENST00000690543.1:c.2475+283_2475+284insAATTAAGG	ENSP00000508831.1:n.2475+283_2475+284insAATTAAGG
ENST00000690917.1:n.2702+283_2702+284insAATTAAGG
ENST00000691361.1:n.1394+283_1394+284insAATTAAGG
ENST00000692783.1:c.2481+283_2481+284insAATTAAGG	ENSP00000508733.1:n.2481+283_2481+284insAATTAAGG
ENST00000692991.1:n.2581+283_2581+284insAATTAAGG
ENST00000288135.6:c.2484+283_2484+284insAATTAAGG MANE Select	ENSP00000288135.6:n.2484+283_2484+284insAATTAAGG
ENST00000288135.5:c.2484+283_2484+284insAATTAAGG	ENSP00000288135.5:n.2484+283_2484+284insAATTAAGG
ENST00000412167.6:c.2472+283_2472+284insAATTAAGG	ENSP00000390987.2:n.2472+283_2472+284insAATTAAGG
NM_000222.2:c.2484+283_2484+284insAATTAAGG , LRG_307t1:c.2484+283_2484+284insAATTAAGG	NP_000213.1:n.2484+283_2484+284insAATTAAGG
NM_001093772.1:c.2472+283_2472+284insAATTAAGG	NP_001087241.1:n.2472+283_2472+284insAATTAAGG
XM_005265740.1:c.2487+283_2487+284insAATTAAGG	XP_005265797.1:n.2487+283_2487+284insAATTAAGG
XM_005265741.1:c.2484+283_2484+284insAATTAAGG	XP_005265798.1:n.2484+283_2484+284insAATTAAGG
XM_005265742.1:c.2475+283_2475+284insAATTAAGG	XP_005265799.1:n.2475+283_2475+284insAATTAAGG
XM_005265742.3:c.2475+283_2475+284insAATTAAGG	XP_005265799.1:n.2475+283_2475+284insAATTAAGG
XM_017008178.1:c.2481+283_2481+284insAATTAAGG	XP_016863667.1:n.2481+283_2481+284insAATTAAGG
XM_017008179.1:c.2472+283_2472+284insAATTAAGG	XP_016863668.1:n.2472+283_2472+284insAATTAAGG
XM_017008180.1:c.2469+283_2469+284insAATTAAGG	XP_016863669.1:n.2469+283_2469+284insAATTAAGG
NM_000222.3:c.2484+283_2484+284insAATTAAGG MANE Select	NP_000213.1:n.2484+283_2484+284insAATTAAGG
NM_001093772.2:c.2472+283_2472+284insAATTAAGG	NP_001087241.1:n.2472+283_2472+284insAATTAAGG
NM_001385284.1:c.2487+283_2487+284insAATTAAGG	NP_001372213.1:n.2487+283_2487+284insAATTAAGG
NM_001385285.1:c.2481+283_2481+284insAATTAAGG	NP_001372214.1:n.2481+283_2481+284insAATTAAGG
NM_001385286.1:c.2469+283_2469+284insAATTAAGG	NP_001372215.1:n.2469+283_2469+284insAATTAAGG
NM_001385288.1:c.2475+283_2475+284insAATTAAGG	NP_001372217.1:n.2475+283_2475+284insAATTAAGG
NM_001385290.1:c.2484+283_2484+284insAATTAAGG	NP_001372219.1:n.2484+283_2484+284insAATTAAGG
NM_001385292.1:c.2472+283_2472+284insAATTAAGG	NP_001372221.1:n.2472+283_2472+284insAATTAAGG