Canonical Allele Identifier: CA2670660667

Gene: KIT

Linked Data

• gnomAD v4: 4-54736631-A-ACAACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736634_54736639dup , CM000666.2:g.54736634_54736639dup	GRCh38
NC_000004.11:g.55602800_55602805dup , CM000666.1:g.55602800_55602805dup	GRCh37
NC_000004.10:g.55297557_55297562dup	NCBI36
NG_007456.1:g.83640_83645dup , LRG_307:g.83640_83645dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2584+25_2584+30dup	ENSP00000390987.3:n.2584+25_2584+30dup
ENST00000684818.1:n.1288+25_1288+30dup
ENST00000685269.1:n.2674+25_2674+30dup
ENST00000686011.1:c.2581+25_2581+30dup	ENSP00000509704.1:n.2581+25_2581+30dup
ENST00000687109.1:c.2599+25_2599+30dup	ENSP00000509371.1:n.2599+25_2599+30dup
ENST00000687208.1:n.3008+25_3008+30dup
ENST00000687246.1:c.2461+25_2461+30dup	ENSP00000509114.1:n.2461+25_2461+30dup
ENST00000687265.1:n.2754+25_2754+30dup
ENST00000687295.1:c.2584+25_2584+30dup	ENSP00000509450.1:n.2584+25_2584+30dup
ENST00000688060.1:n.393+25_393+30dup
ENST00000689832.1:c.2596+25_2596+30dup	ENSP00000509084.1:n.2596+25_2596+30dup
ENST00000689994.1:c.2086+25_2086+30dup	ENSP00000509156.1:n.2086+25_2086+30dup
ENST00000690543.1:c.2587+25_2587+30dup	ENSP00000508831.1:n.2587+25_2587+30dup
ENST00000690917.1:n.2814+25_2814+30dup
ENST00000691361.1:n.1506+25_1506+30dup
ENST00000692301.1:n.1288+25_1288+30dup
ENST00000692783.1:c.2593+25_2593+30dup	ENSP00000508733.1:n.2593+25_2593+30dup
ENST00000692991.1:n.2693+25_2693+30dup
ENST00000288135.6:c.2596+25_2596+30dup MANE Select	ENSP00000288135.6:n.2596+25_2596+30dup
ENST00000288135.5:c.2596+25_2596+30dup	ENSP00000288135.5:n.2596+25_2596+30dup
ENST00000412167.6:c.2584+25_2584+30dup	ENSP00000390987.2:n.2584+25_2584+30dup
NM_000222.2:c.2596+25_2596+30dup , LRG_307t1:c.2596+25_2596+30dup	NP_000213.1:n.2596+25_2596+30dup
NM_001093772.1:c.2584+25_2584+30dup	NP_001087241.1:n.2584+25_2584+30dup
XM_005265740.1:c.2599+25_2599+30dup	XP_005265797.1:n.2599+25_2599+30dup
XM_005265741.1:c.2596+25_2596+30dup	XP_005265798.1:n.2596+25_2596+30dup
XM_005265742.1:c.2587+25_2587+30dup	XP_005265799.1:n.2587+25_2587+30dup
XM_005265742.3:c.2587+25_2587+30dup	XP_005265799.1:n.2587+25_2587+30dup
XM_017008178.1:c.2593+25_2593+30dup	XP_016863667.1:n.2593+25_2593+30dup
XM_017008179.1:c.2584+25_2584+30dup	XP_016863668.1:n.2584+25_2584+30dup
XM_017008180.1:c.2581+25_2581+30dup	XP_016863669.1:n.2581+25_2581+30dup
NM_000222.3:c.2596+25_2596+30dup MANE Select	NP_000213.1:n.2596+25_2596+30dup
NM_001093772.2:c.2584+25_2584+30dup	NP_001087241.1:n.2584+25_2584+30dup
NM_001385284.1:c.2599+25_2599+30dup	NP_001372213.1:n.2599+25_2599+30dup
NM_001385285.1:c.2593+25_2593+30dup	NP_001372214.1:n.2593+25_2593+30dup
NM_001385286.1:c.2581+25_2581+30dup	NP_001372215.1:n.2581+25_2581+30dup
NM_001385288.1:c.2587+25_2587+30dup	NP_001372217.1:n.2587+25_2587+30dup
NM_001385290.1:c.2596+25_2596+30dup	NP_001372219.1:n.2596+25_2596+30dup
NM_001385292.1:c.2584+25_2584+30dup	NP_001372221.1:n.2584+25_2584+30dup