Canonical Allele Identifier: CA2578090159

Gene: KIT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736511_54736512del , CM000666.2:g.54736511_54736512del	GRCh38
NC_000004.11:g.55602677_55602678del , CM000666.1:g.55602677_55602678del	GRCh37
NC_000004.10:g.55297434_55297435del	NCBI36
NG_007456.1:g.83517_83518del , LRG_307:g.83517_83518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2486_2487del	ENSP00000390987.3:p.Val829GlufsTer6
ENST00000684818.1:n.1190_1191del
ENST00000685269.1:n.2576_2577del
ENST00000686011.1:c.2483_2484del	ENSP00000509704.1:p.Val828GlufsTer6
ENST00000687109.1:c.2501_2502del	ENSP00000509371.1:p.Val834GlufsTer6
ENST00000687208.1:n.2910_2911del
ENST00000687246.1:c.2363_2364del	ENSP00000509114.1:p.Val788GlufsTer6
ENST00000687265.1:n.2656_2657del
ENST00000687295.1:c.2486_2487del	ENSP00000509450.1:p.Val829GlufsTer6
ENST00000688060.1:n.295_296del
ENST00000689832.1:c.2498_2499del	ENSP00000509084.1:p.Val833GlufsTer6
ENST00000689994.1:c.1988_1989del	ENSP00000509156.1:p.Val663GlufsTer6
ENST00000690543.1:c.2489_2490del	ENSP00000508831.1:p.Val830GlufsTer6
ENST00000690917.1:n.2716_2717del
ENST00000691361.1:n.1408_1409del
ENST00000692301.1:n.1190_1191del
ENST00000692783.1:c.2495_2496del	ENSP00000508733.1:p.Val832GlufsTer6
ENST00000692991.1:n.2595_2596del
ENST00000288135.6:c.2498_2499del MANE Select	ENSP00000288135.6:p.Val833GlufsTer6
ENST00000288135.5:c.2498_2499del	ENSP00000288135.5:p.Val833GlufsTer6
ENST00000412167.6:c.2486_2487del	ENSP00000390987.2:p.Val829GlufsTer6
NM_000222.2:c.2498_2499del , LRG_307t1:c.2498_2499del	NP_000213.1:p.Val833GlufsTer6
NM_001093772.1:c.2486_2487del	NP_001087241.1:p.Val829GlufsTer6
XM_005265740.1:c.2501_2502del	XP_005265797.1:p.Val834GlufsTer6
XM_005265741.1:c.2498_2499del	XP_005265798.1:p.Val833GlufsTer6
XM_005265742.1:c.2489_2490del	XP_005265799.1:p.Val830GlufsTer6
XM_005265742.3:c.2489_2490del	XP_005265799.1:p.Val830GlufsTer6
XM_017008178.1:c.2495_2496del	XP_016863667.1:p.Val832GlufsTer6
XM_017008179.1:c.2486_2487del	XP_016863668.1:p.Val829GlufsTer6
XM_017008180.1:c.2483_2484del	XP_016863669.1:p.Val828GlufsTer6
NM_000222.3:c.2498_2499del MANE Select	NP_000213.1:p.Val833GlufsTer6
NM_001093772.2:c.2486_2487del	NP_001087241.1:p.Val829GlufsTer6
NM_001385284.1:c.2501_2502del	NP_001372213.1:p.Val834GlufsTer6
NM_001385285.1:c.2495_2496del	NP_001372214.1:p.Val832GlufsTer6
NM_001385286.1:c.2483_2484del	NP_001372215.1:p.Val828GlufsTer6
NM_001385288.1:c.2489_2490del	NP_001372217.1:p.Val830GlufsTer6
NM_001385290.1:c.2498_2499del	NP_001372219.1:p.Val833GlufsTer6
NM_001385292.1:c.2486_2487del	NP_001372221.1:p.Val829GlufsTer6