Canonical Allele Identifier: CA1458738964

Gene: KIT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727495_54727504delinsTTCCTTATGA , CM000666.2:g.54727495_54727504delinsTTCCTTATGA	GRCh38
NC_000004.11:g.55593661_55593670delinsTTCCTTATGA , CM000666.1:g.55593661_55593670delinsTTCCTTATGA	GRCh37
NC_000004.10:g.55288418_55288427delinsTTCCTTATGA	NCBI36
NG_007456.1:g.74501_74510delinsTTCCTTATGA , LRG_307:g.74501_74510delinsTTCCTTATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1718_1727delinsTTCCTTATGA	ENSP00000390987.3:p.Leu573=
ENST00000685269.1:n.1805_1814delinsTTCCTTATGA
ENST00000686011.1:c.1715_1724delinsTTCCTTATGA	ENSP00000509704.1:p.Leu572=
ENST00000687109.1:c.1730_1739delinsTTCCTTATGA	ENSP00000509371.1:p.Leu577=
ENST00000687208.1:n.2142_2151delinsTTCCTTATGA
ENST00000687246.1:c.1715_1724delinsTTCCTTATGA	ENSP00000509114.1:p.Leu572=
ENST00000687265.1:n.1885_1894delinsTTCCTTATGA
ENST00000687295.1:c.1715_1724delinsTTCCTTATGA	ENSP00000509450.1:p.Leu572=
ENST00000689832.1:c.1730_1739delinsTTCCTTATGA	ENSP00000509084.1:p.Leu577=
ENST00000689994.1:c.1217_1226delinsTTCCTTATGA	ENSP00000509156.1:p.Leu406=
ENST00000690543.1:c.1718_1727delinsTTCCTTATGA	ENSP00000508831.1:p.Leu573=
ENST00000690917.1:n.1945_1954delinsTTCCTTATGA
ENST00000691361.1:n.637_646delinsTTCCTTATGA
ENST00000692783.1:c.1727_1736delinsTTCCTTATGA	ENSP00000508733.1:p.Leu576=
ENST00000692991.1:n.1824_1833delinsTTCCTTATGA
ENST00000288135.6:c.1727_1736delinsTTCCTTATGA MANE Select	ENSP00000288135.6:p.Leu576=
ENST00000288135.5:c.1727_1736delinsTTCCTTATGA	ENSP00000288135.5:p.Leu576=
ENST00000412167.6:c.1715_1724delinsTTCCTTATGA	ENSP00000390987.2:p.Leu572=
NM_000222.2:c.1727_1736delinsTTCCTTATGA , LRG_307t1:c.1727_1736delinsTTCCTTATGA	NP_000213.1:p.Leu576=
NM_001093772.1:c.1715_1724delinsTTCCTTATGA	NP_001087241.1:p.Leu572=
XM_005265740.1:c.1730_1739delinsTTCCTTATGA	XP_005265797.1:p.Leu577=
XM_005265741.1:c.1730_1739delinsTTCCTTATGA	XP_005265798.1:p.Leu577=
XM_005265742.1:c.1718_1727delinsTTCCTTATGA	XP_005265799.1:p.Leu573=
XM_005265742.3:c.1718_1727delinsTTCCTTATGA	XP_005265799.1:p.Leu573=
XM_017008178.1:c.1727_1736delinsTTCCTTATGA	XP_016863667.1:p.Leu576=
XM_017008179.1:c.1718_1727delinsTTCCTTATGA	XP_016863668.1:p.Leu573=
XM_017008180.1:c.1715_1724delinsTTCCTTATGA	XP_016863669.1:p.Leu572=
NM_000222.3:c.1727_1736delinsTTCCTTATGA MANE Select	NP_000213.1:p.Leu576=
NM_001093772.2:c.1715_1724delinsTTCCTTATGA	NP_001087241.1:p.Leu572=
NM_001385284.1:c.1730_1739delinsTTCCTTATGA	NP_001372213.1:p.Leu577=
NM_001385285.1:c.1727_1736delinsTTCCTTATGA	NP_001372214.1:p.Leu576=
NM_001385286.1:c.1715_1724delinsTTCCTTATGA	NP_001372215.1:p.Leu572=
NM_001385288.1:c.1718_1727delinsTTCCTTATGA	NP_001372217.1:p.Leu573=
NM_001385290.1:c.1730_1739delinsTTCCTTATGA	NP_001372219.1:p.Leu577=
NM_001385292.1:c.1718_1727delinsTTCCTTATGA	NP_001372221.1:p.Leu573=