Canonical Allele Identifier: CA16611520
Gene: KIT HGNC NCBI

Linked Data

ClinVar Variation Id: 409664
ClinVar RCV Id: RCV000470229
dbSNP Id: rs1060502521

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54733162del , CM000666.2:g.54733162del GRCh38
NC_000004.11:g.55599328del , CM000666.1:g.55599328del GRCh37
NC_000004.10:g.55294085del NCBI36
NG_007456.1:g.80168del , LRG_307:g.80168del

Transcript Alleles

HGVS Amino-acid change
ENST00000412167.7:c.2442del ENSP00000390987.3:p.Asn815MetfsTer15
ENST00000685269.1:n.2532del
ENST00000686011.1:c.2439del ENSP00000509704.1:p.Asn814MetfsTer15
ENST00000687109.1:c.2457del ENSP00000509371.1:p.Asn820MetfsTer15
ENST00000687208.1:n.2866del
ENST00000687246.1:c.2349+1164del ENSP00000509114.1:n.2349+1164del
ENST00000687265.1:n.2612del
ENST00000687295.1:c.2442del ENSP00000509450.1:p.Asn815MetfsTer15
ENST00000688060.1:n.251del
ENST00000688704.1:n.1466del
ENST00000689832.1:c.2454del ENSP00000509084.1:p.Asn819MetfsTer15
ENST00000689994.1:c.1944del ENSP00000509156.1:p.Asn649MetfsTer15
ENST00000690543.1:c.2445del ENSP00000508831.1:p.Asn816MetfsTer15
ENST00000690917.1:n.2672del
ENST00000691361.1:n.1364del
ENST00000692783.1:c.2451del ENSP00000508733.1:p.Asn818MetfsTer15
ENST00000692991.1:n.2551del
ENST00000288135.6:c.2454del MANE Select ENSP00000288135.6:p.Asn819MetfsTer15
ENST00000288135.5:c.2454del ENSP00000288135.5:p.Asn819MetfsTer15
ENST00000412167.6:c.2442del ENSP00000390987.2:p.Asn815MetfsTer15
ENST00000512959.1:n.507del
NM_000222.2:c.2454del , LRG_307t1:c.2454del NP_000213.1:p.Asn819MetfsTer15
NM_001093772.1:c.2442del NP_001087241.1:p.Asn815MetfsTer15
XM_005265740.1:c.2457del XP_005265797.1:p.Asn820MetfsTer15
XM_005265741.1:c.2454del XP_005265798.1:p.Asn819MetfsTer15
XM_005265742.1:c.2445del XP_005265799.1:p.Asn816MetfsTer15
XM_005265742.3:c.2445del XP_005265799.1:p.Asn816MetfsTer15
XM_017008178.1:c.2451del XP_016863667.1:p.Asn818MetfsTer15
XM_017008179.1:c.2442del XP_016863668.1:p.Asn815MetfsTer15
XM_017008180.1:c.2439del XP_016863669.1:p.Asn814MetfsTer15
NM_000222.3:c.2454del MANE Select NP_000213.1:p.Asn819MetfsTer15
NM_001093772.2:c.2442del NP_001087241.1:p.Asn815MetfsTer15
NM_001385284.1:c.2457del NP_001372213.1:p.Asn820MetfsTer15
NM_001385285.1:c.2451del NP_001372214.1:p.Asn818MetfsTer15
NM_001385286.1:c.2439del NP_001372215.1:p.Asn814MetfsTer15
NM_001385288.1:c.2445del NP_001372217.1:p.Asn816MetfsTer15
NM_001385290.1:c.2454del NP_001372219.1:p.Asn819MetfsTer15
NM_001385292.1:c.2442del NP_001372221.1:p.Asn815MetfsTer15