Canonical Allele Identifier: CA2586966003
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54733177_54733192del , CM000666.2:g.54733177_54733192del GRCh38
NC_000004.11:g.55599343_55599358del , CM000666.1:g.55599343_55599358del GRCh37
NC_000004.10:g.55294100_55294115del NCBI36
NG_007456.1:g.80183_80198del , LRG_307:g.80183_80198del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2457_2472del ENSP00000390987.3:p.Tyr819Ter
ENST00000685269.1:n.2547_2562del
ENST00000686011.1:c.2454_2469del ENSP00000509704.1:p.Tyr818Ter
ENST00000687109.1:c.2472_2487del ENSP00000509371.1:p.Tyr824Ter
ENST00000687208.1:n.2881_2896del
ENST00000687246.1:c.2349+1179_2349+1194del ENSP00000509114.1:n.2349+1179_2349+1194del
ENST00000687265.1:n.2627_2642del
ENST00000687295.1:c.2457_2472del ENSP00000509450.1:p.Tyr819Ter
ENST00000688060.1:n.266_281del
ENST00000688704.1:n.1481_1496del
ENST00000689832.1:c.2469_2484del ENSP00000509084.1:p.Tyr823Ter
ENST00000689994.1:c.1959_1974del ENSP00000509156.1:p.Tyr653Ter
ENST00000690543.1:c.2460_2475del ENSP00000508831.1:p.Tyr820Ter
ENST00000690917.1:n.2687_2702del
ENST00000691361.1:n.1379_1394del
ENST00000692783.1:c.2466_2481del ENSP00000508733.1:p.Tyr822Ter
ENST00000692991.1:n.2566_2581del
ENST00000288135.6:c.2469_2484del MANE Select ENSP00000288135.6:p.Tyr823Ter
ENST00000288135.5:c.2469_2484del ENSP00000288135.5:p.Tyr823Ter
ENST00000412167.6:c.2457_2472del ENSP00000390987.2:p.Tyr819Ter
ENST00000512959.1:n.522_537del
NM_000222.2:c.2469_2484del , LRG_307t1:c.2469_2484del NP_000213.1:p.Tyr823Ter
NM_001093772.1:c.2457_2472del NP_001087241.1:p.Tyr819Ter
XM_005265740.1:c.2472_2487del XP_005265797.1:p.Tyr824Ter
XM_005265741.1:c.2469_2484del XP_005265798.1:p.Tyr823Ter
XM_005265742.1:c.2460_2475del XP_005265799.1:p.Tyr820Ter
XM_005265742.3:c.2460_2475del XP_005265799.1:p.Tyr820Ter
XM_017008178.1:c.2466_2481del XP_016863667.1:p.Tyr822Ter
XM_017008179.1:c.2457_2472del XP_016863668.1:p.Tyr819Ter
XM_017008180.1:c.2454_2469del XP_016863669.1:p.Tyr818Ter
NM_000222.3:c.2469_2484del MANE Select NP_000213.1:p.Tyr823Ter
NM_001093772.2:c.2457_2472del NP_001087241.1:p.Tyr819Ter
NM_001385284.1:c.2472_2487del NP_001372213.1:p.Tyr824Ter
NM_001385285.1:c.2466_2481del NP_001372214.1:p.Tyr822Ter
NM_001385286.1:c.2454_2469del NP_001372215.1:p.Tyr818Ter
NM_001385288.1:c.2460_2475del NP_001372217.1:p.Tyr820Ter
NM_001385290.1:c.2469_2484del NP_001372219.1:p.Tyr823Ter
NM_001385292.1:c.2457_2472del NP_001372221.1:p.Tyr819Ter