Canonical Allele Identifier: CA1458759867
Gene: KIT HGNC NCBI

Linked Data

dbSNP Id: rs1722210937

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54726261_54726269del , CM000666.2:g.54726261_54726269del GRCh38
NC_000004.11:g.55592427_55592435del , CM000666.1:g.55592427_55592435del GRCh37
NC_000004.10:g.55287184_55287192del NCBI36
NG_007456.1:g.73267_73275del , LRG_307:g.73267_73275del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1531+223_1531+231del ENSP00000390987.3:n.1531+223_1531+231del
ENST00000685269.1:n.1618+211_1618+219del
ENST00000686011.1:c.1528+223_1528+231del ENSP00000509704.1:n.1528+223_1528+231del
ENST00000687109.1:c.1543+211_1543+219del ENSP00000509371.1:n.1543+211_1543+219del
ENST00000687208.1:n.1955+211_1955+219del
ENST00000687246.1:c.1528+223_1528+231del ENSP00000509114.1:n.1528+223_1528+231del
ENST00000687265.1:n.1698+223_1698+231del
ENST00000687295.1:c.1528+223_1528+231del ENSP00000509450.1:n.1528+223_1528+231del
ENST00000689832.1:c.1543+211_1543+219del ENSP00000509084.1:n.1543+211_1543+219del
ENST00000689994.1:c.1030+211_1030+219del ENSP00000509156.1:n.1030+211_1030+219del
ENST00000690543.1:c.1531+223_1531+231del ENSP00000508831.1:n.1531+223_1531+231del
ENST00000690917.1:n.1758+211_1758+219del
ENST00000691361.1:n.450+223_450+231del
ENST00000692783.1:c.1540+211_1540+219del ENSP00000508733.1:n.1540+211_1540+219del
ENST00000692991.1:n.1637+223_1637+231del
ENST00000288135.6:c.1540+211_1540+219del MANE Select ENSP00000288135.6:n.1540+211_1540+219del
ENST00000288135.5:c.1540+211_1540+219del ENSP00000288135.5:n.1540+211_1540+219del
ENST00000412167.6:c.1528+223_1528+231del ENSP00000390987.2:n.1528+223_1528+231del
NM_000222.2:c.1540+211_1540+219del , LRG_307t1:c.1540+211_1540+219del NP_000213.1:n.1540+211_1540+219del
NM_001093772.1:c.1528+223_1528+231del NP_001087241.1:n.1528+223_1528+231del
XM_005265740.1:c.1543+211_1543+219del XP_005265797.1:n.1543+211_1543+219del
XM_005265741.1:c.1543+211_1543+219del XP_005265798.1:n.1543+211_1543+219del
XM_005265742.1:c.1531+223_1531+231del XP_005265799.1:n.1531+223_1531+231del
XM_005265742.3:c.1531+223_1531+231del XP_005265799.1:n.1531+223_1531+231del
XM_017008178.1:c.1540+211_1540+219del XP_016863667.1:n.1540+211_1540+219del
XM_017008179.1:c.1531+223_1531+231del XP_016863668.1:n.1531+223_1531+231del
XM_017008180.1:c.1528+223_1528+231del XP_016863669.1:n.1528+223_1528+231del
NM_000222.3:c.1540+211_1540+219del MANE Select NP_000213.1:n.1540+211_1540+219del
NM_001093772.2:c.1528+223_1528+231del NP_001087241.1:n.1528+223_1528+231del
NM_001385284.1:c.1543+211_1543+219del NP_001372213.1:n.1543+211_1543+219del
NM_001385285.1:c.1540+211_1540+219del NP_001372214.1:n.1540+211_1540+219del
NM_001385286.1:c.1528+223_1528+231del NP_001372215.1:n.1528+223_1528+231del
NM_001385288.1:c.1531+223_1531+231del NP_001372217.1:n.1531+223_1531+231del
NM_001385290.1:c.1543+211_1543+219del NP_001372219.1:n.1543+211_1543+219del
NM_001385292.1:c.1531+223_1531+231del NP_001372221.1:n.1531+223_1531+231del