Canonical Allele Identifier: CA2697546735

Gene: KIT

Linked Data

• ClinVar Variation Id: 2770875
• ClinVar RCV Id: RCV003526587

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736614_54736615dup , CM000666.2:g.54736614_54736615dup	GRCh38
NC_000004.11:g.55602780_55602781dup , CM000666.1:g.55602780_55602781dup	GRCh37
NC_000004.10:g.55297537_55297538dup	NCBI36
NG_007456.1:g.83620_83621dup , LRG_307:g.83620_83621dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2584+5_2584+6dup	ENSP00000390987.3:n.2584+5_2584+6dup
ENST00000684818.1:n.1288+5_1288+6dup
ENST00000685269.1:n.2674+5_2674+6dup
ENST00000686011.1:c.2581+5_2581+6dup	ENSP00000509704.1:n.2581+5_2581+6dup
ENST00000687109.1:c.2599+5_2599+6dup	ENSP00000509371.1:n.2599+5_2599+6dup
ENST00000687208.1:n.3008+5_3008+6dup
ENST00000687246.1:c.2461+5_2461+6dup	ENSP00000509114.1:n.2461+5_2461+6dup
ENST00000687265.1:n.2754+5_2754+6dup
ENST00000687295.1:c.2584+5_2584+6dup	ENSP00000509450.1:n.2584+5_2584+6dup
ENST00000688060.1:n.393+5_393+6dup
ENST00000689832.1:c.2596+5_2596+6dup	ENSP00000509084.1:n.2596+5_2596+6dup
ENST00000689994.1:c.2086+5_2086+6dup	ENSP00000509156.1:n.2086+5_2086+6dup
ENST00000690543.1:c.2587+5_2587+6dup	ENSP00000508831.1:n.2587+5_2587+6dup
ENST00000690917.1:n.2814+5_2814+6dup
ENST00000691361.1:n.1506+5_1506+6dup
ENST00000692301.1:n.1288+5_1288+6dup
ENST00000692783.1:c.2593+5_2593+6dup	ENSP00000508733.1:n.2593+5_2593+6dup
ENST00000692991.1:n.2693+5_2693+6dup
ENST00000288135.6:c.2596+5_2596+6dup MANE Select	ENSP00000288135.6:n.2596+5_2596+6dup
ENST00000288135.5:c.2596+5_2596+6dup	ENSP00000288135.5:n.2596+5_2596+6dup
ENST00000412167.6:c.2584+5_2584+6dup	ENSP00000390987.2:n.2584+5_2584+6dup
NM_000222.2:c.2596+5_2596+6dup , LRG_307t1:c.2596+5_2596+6dup	NP_000213.1:n.2596+5_2596+6dup
NM_001093772.1:c.2584+5_2584+6dup	NP_001087241.1:n.2584+5_2584+6dup
XM_005265740.1:c.2599+5_2599+6dup	XP_005265797.1:n.2599+5_2599+6dup
XM_005265741.1:c.2596+5_2596+6dup	XP_005265798.1:n.2596+5_2596+6dup
XM_005265742.1:c.2587+5_2587+6dup	XP_005265799.1:n.2587+5_2587+6dup
XM_005265742.3:c.2587+5_2587+6dup	XP_005265799.1:n.2587+5_2587+6dup
XM_017008178.1:c.2593+5_2593+6dup	XP_016863667.1:n.2593+5_2593+6dup
XM_017008179.1:c.2584+5_2584+6dup	XP_016863668.1:n.2584+5_2584+6dup
XM_017008180.1:c.2581+5_2581+6dup	XP_016863669.1:n.2581+5_2581+6dup
NM_000222.3:c.2596+5_2596+6dup MANE Select	NP_000213.1:n.2596+5_2596+6dup
NM_001093772.2:c.2584+5_2584+6dup	NP_001087241.1:n.2584+5_2584+6dup
NM_001385284.1:c.2599+5_2599+6dup	NP_001372213.1:n.2599+5_2599+6dup
NM_001385285.1:c.2593+5_2593+6dup	NP_001372214.1:n.2593+5_2593+6dup
NM_001385286.1:c.2581+5_2581+6dup	NP_001372215.1:n.2581+5_2581+6dup
NM_001385288.1:c.2587+5_2587+6dup	NP_001372217.1:n.2587+5_2587+6dup
NM_001385290.1:c.2596+5_2596+6dup	NP_001372219.1:n.2596+5_2596+6dup
NM_001385292.1:c.2584+5_2584+6dup	NP_001372221.1:n.2584+5_2584+6dup