Canonical Allele Identifier: CA551651650

Gene: KIT

Linked Data

• dbSNP Id: rs1171104303
• gnomAD v2: 4-55592217-G-GCT
• MyVariant Identifiers: chr4:g.55592217_55592218insCT (hg19) ; chr4:g.54726051_54726052insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54726051_54726052insCT , CM000666.2:g.54726051_54726052insCT	GRCh38
NC_000004.11:g.55592217_55592218insCT , CM000666.1:g.55592217_55592218insCT	GRCh37
NC_000004.10:g.55286974_55286975insCT	NCBI36
NG_007456.1:g.73057_73058insCT , LRG_307:g.73057_73058insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1531+13_1531+14insCT	ENSP00000390987.3:n.1531+13_1531+14insCT
ENST00000685269.1:n.1618+1_1618+2insCT
ENST00000686011.1:c.1528+13_1528+14insCT	ENSP00000509704.1:n.1528+13_1528+14insCT
ENST00000687109.1:c.1543+1_1543+2insCT	ENSP00000509371.1:n.1543+1_1543+2insCT
ENST00000687208.1:n.1955+1_1955+2insCT
ENST00000687246.1:c.1528+13_1528+14insCT	ENSP00000509114.1:n.1528+13_1528+14insCT
ENST00000687265.1:n.1698+13_1698+14insCT
ENST00000687295.1:c.1528+13_1528+14insCT	ENSP00000509450.1:n.1528+13_1528+14insCT
ENST00000689832.1:c.1543+1_1543+2insCT	ENSP00000509084.1:n.1543+1_1543+2insCT
ENST00000689994.1:c.1030+1_1030+2insCT	ENSP00000509156.1:n.1030+1_1030+2insCT
ENST00000690543.1:c.1531+13_1531+14insCT	ENSP00000508831.1:n.1531+13_1531+14insCT
ENST00000690917.1:n.1758+1_1758+2insCT
ENST00000691361.1:n.450+13_450+14insCT
ENST00000692783.1:c.1540+1_1540+2insCT	ENSP00000508733.1:n.1540+1_1540+2insCT
ENST00000692991.1:n.1637+13_1637+14insCT
ENST00000288135.6:c.1540+1_1540+2insCT MANE Select	ENSP00000288135.6:n.1540+1_1540+2insCT
ENST00000288135.5:c.1540+1_1540+2insCT	ENSP00000288135.5:n.1540+1_1540+2insCT
ENST00000412167.6:c.1528+13_1528+14insCT	ENSP00000390987.2:n.1528+13_1528+14insCT
NM_000222.2:c.1540+1_1540+2insCT , LRG_307t1:c.1540+1_1540+2insCT	NP_000213.1:n.1540+1_1540+2insCT
NM_001093772.1:c.1528+13_1528+14insCT	NP_001087241.1:n.1528+13_1528+14insCT
XM_005265740.1:c.1543+1_1543+2insCT	XP_005265797.1:n.1543+1_1543+2insCT
XM_005265741.1:c.1543+1_1543+2insCT	XP_005265798.1:n.1543+1_1543+2insCT
XM_005265742.1:c.1531+13_1531+14insCT	XP_005265799.1:n.1531+13_1531+14insCT
XM_005265742.3:c.1531+13_1531+14insCT	XP_005265799.1:n.1531+13_1531+14insCT
XM_017008178.1:c.1540+1_1540+2insCT	XP_016863667.1:n.1540+1_1540+2insCT
XM_017008179.1:c.1531+13_1531+14insCT	XP_016863668.1:n.1531+13_1531+14insCT
XM_017008180.1:c.1528+13_1528+14insCT	XP_016863669.1:n.1528+13_1528+14insCT
NM_000222.3:c.1540+1_1540+2insCT MANE Select	NP_000213.1:n.1540+1_1540+2insCT
NM_001093772.2:c.1528+13_1528+14insCT	NP_001087241.1:n.1528+13_1528+14insCT
NM_001385284.1:c.1543+1_1543+2insCT	NP_001372213.1:n.1543+1_1543+2insCT
NM_001385285.1:c.1540+1_1540+2insCT	NP_001372214.1:n.1540+1_1540+2insCT
NM_001385286.1:c.1528+13_1528+14insCT	NP_001372215.1:n.1528+13_1528+14insCT
NM_001385288.1:c.1531+13_1531+14insCT	NP_001372217.1:n.1531+13_1531+14insCT
NM_001385290.1:c.1543+1_1543+2insCT	NP_001372219.1:n.1543+1_1543+2insCT
NM_001385292.1:c.1531+13_1531+14insCT	NP_001372221.1:n.1531+13_1531+14insCT