Canonical Allele Identifier: CA915940379

Gene: KIT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727493_54727498del , CM000666.2:g.54727493_54727498del	GRCh38
NC_000004.11:g.55593659_55593664del , CM000666.1:g.55593659_55593664del	GRCh37
NC_000004.10:g.55288416_55288421del	NCBI36
NG_007456.1:g.74499_74504del , LRG_307:g.74499_74504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1716_1721del	ENSP00000390987.3:p.Gln572_Pro574delinsHis
ENST00000685269.1:n.1803_1808del
ENST00000686011.1:c.1713_1718del	ENSP00000509704.1:p.Gln571_Pro573delinsHis
ENST00000687109.1:c.1728_1733del	ENSP00000509371.1:p.Gln576_Pro578delinsHis
ENST00000687208.1:n.2140_2145del
ENST00000687246.1:c.1713_1718del	ENSP00000509114.1:p.Gln571_Pro573delinsHis
ENST00000687265.1:n.1883_1888del
ENST00000687295.1:c.1713_1718del	ENSP00000509450.1:p.Gln571_Pro573delinsHis
ENST00000689832.1:c.1728_1733del	ENSP00000509084.1:p.Gln576_Pro578delinsHis
ENST00000689994.1:c.1215_1220del	ENSP00000509156.1:p.Gln405_Pro407delinsHis
ENST00000690543.1:c.1716_1721del	ENSP00000508831.1:p.Gln572_Pro574delinsHis
ENST00000690917.1:n.1943_1948del
ENST00000691361.1:n.635_640del
ENST00000692783.1:c.1725_1730del	ENSP00000508733.1:p.Gln575_Pro577delinsHis
ENST00000692991.1:n.1822_1827del
ENST00000288135.6:c.1725_1730del MANE Select	ENSP00000288135.6:p.Gln575_Pro577delinsHis
ENST00000288135.5:c.1725_1730del	ENSP00000288135.5:p.Gln575_Pro577delinsHis
ENST00000412167.6:c.1713_1718del	ENSP00000390987.2:p.Gln571_Pro573delinsHis
NM_000222.2:c.1725_1730del , LRG_307t1:c.1725_1730del	NP_000213.1:p.Gln575_Pro577delinsHis
NM_001093772.1:c.1713_1718del	NP_001087241.1:p.Gln571_Pro573delinsHis
XM_005265740.1:c.1728_1733del	XP_005265797.1:p.Gln576_Pro578delinsHis
XM_005265741.1:c.1728_1733del	XP_005265798.1:p.Gln576_Pro578delinsHis
XM_005265742.1:c.1716_1721del	XP_005265799.1:p.Gln572_Pro574delinsHis
XM_005265742.3:c.1716_1721del	XP_005265799.1:p.Gln572_Pro574delinsHis
XM_017008178.1:c.1725_1730del	XP_016863667.1:p.Gln575_Pro577delinsHis
XM_017008179.1:c.1716_1721del	XP_016863668.1:p.Gln572_Pro574delinsHis
XM_017008180.1:c.1713_1718del	XP_016863669.1:p.Gln571_Pro573delinsHis
NM_000222.3:c.1725_1730del MANE Select	NP_000213.1:p.Gln575_Pro577delinsHis
NM_001093772.2:c.1713_1718del	NP_001087241.1:p.Gln571_Pro573delinsHis
NM_001385284.1:c.1728_1733del	NP_001372213.1:p.Gln576_Pro578delinsHis
NM_001385285.1:c.1725_1730del	NP_001372214.1:p.Gln575_Pro577delinsHis
NM_001385286.1:c.1713_1718del	NP_001372215.1:p.Gln571_Pro573delinsHis
NM_001385288.1:c.1716_1721del	NP_001372217.1:p.Gln572_Pro574delinsHis
NM_001385290.1:c.1728_1733del	NP_001372219.1:p.Gln576_Pro578delinsHis
NM_001385292.1:c.1716_1721del	NP_001372221.1:p.Gln572_Pro574delinsHis