Canonical Allele Identifier: CA1458739981
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs1722369988

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54728296_54728301del , CM000666.2:g.54728296_54728301del GRCh38
NC_000004.11:g.55594462_55594467del , CM000666.1:g.55594462_55594467del GRCh37
NC_000004.10:g.55289219_55289224del NCBI36
NG_007456.1:g.75302_75307del , LRG_307:g.75302_75307del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1981+175_1981+180del ENSP00000390987.3:n.1981+175_1981+180del
ENST00000685269.1:n.2068+175_2068+180del
ENST00000686011.1:c.1978+175_1978+180del ENSP00000509704.1:n.1978+175_1978+180del
ENST00000687109.1:c.1993+175_1993+180del ENSP00000509371.1:n.1993+175_1993+180del
ENST00000687208.1:n.2405+175_2405+180del
ENST00000687246.1:c.1978+175_1978+180del ENSP00000509114.1:n.1978+175_1978+180del
ENST00000687265.1:n.2148+175_2148+180del
ENST00000687295.1:c.1978+175_1978+180del ENSP00000509450.1:n.1978+175_1978+180del
ENST00000689832.1:c.1993+175_1993+180del ENSP00000509084.1:n.1993+175_1993+180del
ENST00000689994.1:c.1480+175_1480+180del ENSP00000509156.1:n.1480+175_1480+180del
ENST00000690543.1:c.1981+175_1981+180del ENSP00000508831.1:n.1981+175_1981+180del
ENST00000690917.1:n.2208+175_2208+180del
ENST00000691361.1:n.900+175_900+180del
ENST00000692783.1:c.1990+175_1990+180del ENSP00000508733.1:n.1990+175_1990+180del
ENST00000692991.1:n.2087+175_2087+180del
ENST00000288135.6:c.1990+175_1990+180del MANE Select ENSP00000288135.6:n.1990+175_1990+180del
ENST00000288135.5:c.1990+175_1990+180del ENSP00000288135.5:n.1990+175_1990+180del
ENST00000412167.6:c.1978+175_1978+180del ENSP00000390987.2:n.1978+175_1978+180del
NM_000222.2:c.1990+175_1990+180del , LRG_307t1:c.1990+175_1990+180del NP_000213.1:n.1990+175_1990+180del
NM_001093772.1:c.1978+175_1978+180del NP_001087241.1:n.1978+175_1978+180del
XM_005265740.1:c.1993+175_1993+180del XP_005265797.1:n.1993+175_1993+180del
XM_005265741.1:c.1993+175_1993+180del XP_005265798.1:n.1993+175_1993+180del
XM_005265742.1:c.1981+175_1981+180del XP_005265799.1:n.1981+175_1981+180del
XM_005265742.3:c.1981+175_1981+180del XP_005265799.1:n.1981+175_1981+180del
XM_017008178.1:c.1990+175_1990+180del XP_016863667.1:n.1990+175_1990+180del
XM_017008179.1:c.1981+175_1981+180del XP_016863668.1:n.1981+175_1981+180del
XM_017008180.1:c.1978+175_1978+180del XP_016863669.1:n.1978+175_1978+180del
NM_000222.3:c.1990+175_1990+180del MANE Select NP_000213.1:n.1990+175_1990+180del
NM_001093772.2:c.1978+175_1978+180del NP_001087241.1:n.1978+175_1978+180del
NM_001385284.1:c.1993+175_1993+180del NP_001372213.1:n.1993+175_1993+180del
NM_001385285.1:c.1990+175_1990+180del NP_001372214.1:n.1990+175_1990+180del
NM_001385286.1:c.1978+175_1978+180del NP_001372215.1:n.1978+175_1978+180del
NM_001385288.1:c.1981+175_1981+180del NP_001372217.1:n.1981+175_1981+180del
NM_001385290.1:c.1993+175_1993+180del NP_001372219.1:n.1993+175_1993+180del
NM_001385292.1:c.1981+175_1981+180del NP_001372221.1:n.1981+175_1981+180del