Canonical Allele Identifier: CA2534857716
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54736396_54736397del , CM000666.2:g.54736396_54736397del GRCh38
NC_000004.11:g.55602562_55602563del , CM000666.1:g.55602562_55602563del GRCh37
NC_000004.10:g.55297319_55297320del NCBI36
NG_007456.1:g.83402_83403del , LRG_307:g.83402_83403del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.2473-102_2473-101del ENSP00000390987.3:n.2473-102_2473-101del
ENST00000684818.1:n.1075_1076del
ENST00000685269.1:n.2563-102_2563-101del
ENST00000686011.1:c.2470-102_2470-101del ENSP00000509704.1:n.2470-102_2470-101del
ENST00000687109.1:c.2488-102_2488-101del ENSP00000509371.1:n.2488-102_2488-101del
ENST00000687208.1:n.2897-102_2897-101del
ENST00000687246.1:c.2350-102_2350-101del ENSP00000509114.1:n.2350-102_2350-101del
ENST00000687265.1:n.2643-102_2643-101del
ENST00000687295.1:c.2473-102_2473-101del ENSP00000509450.1:n.2473-102_2473-101del
ENST00000688060.1:n.282-102_282-101del
ENST00000689832.1:c.2485-102_2485-101del ENSP00000509084.1:n.2485-102_2485-101del
ENST00000689994.1:c.1975-102_1975-101del ENSP00000509156.1:n.1975-102_1975-101del
ENST00000690543.1:c.2476-102_2476-101del ENSP00000508831.1:n.2476-102_2476-101del
ENST00000690917.1:n.2703-102_2703-101del
ENST00000691361.1:n.1395-102_1395-101del
ENST00000692301.1:n.1075_1076del
ENST00000692783.1:c.2482-102_2482-101del ENSP00000508733.1:n.2482-102_2482-101del
ENST00000692991.1:n.2582-102_2582-101del
ENST00000288135.6:c.2485-102_2485-101del MANE Select ENSP00000288135.6:n.2485-102_2485-101del
ENST00000288135.5:c.2485-102_2485-101del ENSP00000288135.5:n.2485-102_2485-101del
ENST00000412167.6:c.2473-102_2473-101del ENSP00000390987.2:n.2473-102_2473-101del
NM_000222.2:c.2485-102_2485-101del , LRG_307t1:c.2485-102_2485-101del NP_000213.1:n.2485-102_2485-101del
NM_001093772.1:c.2473-102_2473-101del NP_001087241.1:n.2473-102_2473-101del
XM_005265740.1:c.2488-102_2488-101del XP_005265797.1:n.2488-102_2488-101del
XM_005265741.1:c.2485-102_2485-101del XP_005265798.1:n.2485-102_2485-101del
XM_005265742.1:c.2476-102_2476-101del XP_005265799.1:n.2476-102_2476-101del
XM_005265742.3:c.2476-102_2476-101del XP_005265799.1:n.2476-102_2476-101del
XM_017008178.1:c.2482-102_2482-101del XP_016863667.1:n.2482-102_2482-101del
XM_017008179.1:c.2473-102_2473-101del XP_016863668.1:n.2473-102_2473-101del
XM_017008180.1:c.2470-102_2470-101del XP_016863669.1:n.2470-102_2470-101del
NM_000222.3:c.2485-102_2485-101del MANE Select NP_000213.1:n.2485-102_2485-101del
NM_001093772.2:c.2473-102_2473-101del NP_001087241.1:n.2473-102_2473-101del
NM_001385284.1:c.2488-102_2488-101del NP_001372213.1:n.2488-102_2488-101del
NM_001385285.1:c.2482-102_2482-101del NP_001372214.1:n.2482-102_2482-101del
NM_001385286.1:c.2470-102_2470-101del NP_001372215.1:n.2470-102_2470-101del
NM_001385288.1:c.2476-102_2476-101del NP_001372217.1:n.2476-102_2476-101del
NM_001385290.1:c.2485-102_2485-101del NP_001372219.1:n.2485-102_2485-101del
NM_001385292.1:c.2473-102_2473-101del NP_001372221.1:n.2473-102_2473-101del