Canonical Allele Identifier: CA2580611022
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54727457_54727504delinsTGG , CM000666.2:g.54727457_54727504delinsTGG GRCh38
NC_000004.11:g.55593623_55593670delinsTGG , CM000666.1:g.55593623_55593670delinsTGG GRCh37
NC_000004.10:g.55288380_55288427delinsTGG NCBI36
NG_007456.1:g.74463_74510delinsTGG , LRG_307:g.74463_74510delinsTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000412167.7:c.1680_1727delinsTGG ENSP00000390987.3:p.Asn561_Asp576delinsGly
ENST00000685269.1:n.1767_1814delinsTGG
ENST00000686011.1:c.1677_1724delinsTGG ENSP00000509704.1:p.Asn560_Asp575delinsGly
ENST00000687109.1:c.1692_1739delinsTGG ENSP00000509371.1:p.Asn565_Asp580delinsGly
ENST00000687208.1:n.2104_2151delinsTGG
ENST00000687246.1:c.1677_1724delinsTGG ENSP00000509114.1:p.Asn560_Asp575delinsGly
ENST00000687265.1:n.1847_1894delinsTGG
ENST00000687295.1:c.1677_1724delinsTGG ENSP00000509450.1:p.Asn560_Asp575delinsGly
ENST00000689832.1:c.1692_1739delinsTGG ENSP00000509084.1:p.Asn565_Asp580delinsGly
ENST00000689994.1:c.1179_1226delinsTGG ENSP00000509156.1:p.Asn394_Asp409delinsGly
ENST00000690543.1:c.1680_1727delinsTGG ENSP00000508831.1:p.Asn561_Asp576delinsGly
ENST00000690917.1:n.1907_1954delinsTGG
ENST00000691361.1:n.599_646delinsTGG
ENST00000692783.1:c.1689_1736delinsTGG ENSP00000508733.1:p.Asn564_Asp579delinsGly
ENST00000692991.1:n.1786_1833delinsTGG
ENST00000288135.6:c.1689_1736delinsTGG MANE Select ENSP00000288135.6:p.Asn564_Asp579delinsGly
ENST00000288135.5:c.1689_1736delinsTGG ENSP00000288135.5:p.Asn564_Asp579delinsGly
ENST00000412167.6:c.1677_1724delinsTGG ENSP00000390987.2:p.Asn560_Asp575delinsGly
NM_000222.2:c.1689_1736delinsTGG , LRG_307t1:c.1689_1736delinsTGG NP_000213.1:p.Asn564_Asp579delinsGly
NM_001093772.1:c.1677_1724delinsTGG NP_001087241.1:p.Asn560_Asp575delinsGly
XM_005265740.1:c.1692_1739delinsTGG XP_005265797.1:p.Asn565_Asp580delinsGly
XM_005265741.1:c.1692_1739delinsTGG XP_005265798.1:p.Asn565_Asp580delinsGly
XM_005265742.1:c.1680_1727delinsTGG XP_005265799.1:p.Asn561_Asp576delinsGly
XM_005265742.3:c.1680_1727delinsTGG XP_005265799.1:p.Asn561_Asp576delinsGly
XM_017008178.1:c.1689_1736delinsTGG XP_016863667.1:p.Asn564_Asp579delinsGly
XM_017008179.1:c.1680_1727delinsTGG XP_016863668.1:p.Asn561_Asp576delinsGly
XM_017008180.1:c.1677_1724delinsTGG XP_016863669.1:p.Asn560_Asp575delinsGly
NM_000222.3:c.1689_1736delinsTGG MANE Select NP_000213.1:p.Asn564_Asp579delinsGly
NM_001093772.2:c.1677_1724delinsTGG NP_001087241.1:p.Asn560_Asp575delinsGly
NM_001385284.1:c.1692_1739delinsTGG NP_001372213.1:p.Asn565_Asp580delinsGly
NM_001385285.1:c.1689_1736delinsTGG NP_001372214.1:p.Asn564_Asp579delinsGly
NM_001385286.1:c.1677_1724delinsTGG NP_001372215.1:p.Asn560_Asp575delinsGly
NM_001385288.1:c.1680_1727delinsTGG NP_001372217.1:p.Asn561_Asp576delinsGly
NM_001385290.1:c.1692_1739delinsTGG NP_001372219.1:p.Asn565_Asp580delinsGly
NM_001385292.1:c.1680_1727delinsTGG NP_001372221.1:p.Asn561_Asp576delinsGly