Canonical Allele Identifier: CA2670660947

Gene: KIT

Linked Data

• gnomAD v4: 4-54728041-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54728041_54728042insG , CM000666.2:g.54728041_54728042insG	GRCh38
NC_000004.11:g.55594207_55594208insG , CM000666.1:g.55594207_55594208insG	GRCh37
NC_000004.10:g.55288964_55288965insG	NCBI36
NG_007456.1:g.75047_75048insG , LRG_307:g.75047_75048insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1901_1902insG	ENSP00000390987.3:p.Met635HisfsTer3
ENST00000685269.1:n.1988_1989insG
ENST00000686011.1:c.1898_1899insG	ENSP00000509704.1:p.Met634HisfsTer3
ENST00000687109.1:c.1913_1914insG	ENSP00000509371.1:p.Met639HisfsTer3
ENST00000687208.1:n.2325_2326insG
ENST00000687246.1:c.1898_1899insG	ENSP00000509114.1:p.Met634HisfsTer3
ENST00000687265.1:n.2068_2069insG
ENST00000687295.1:c.1898_1899insG	ENSP00000509450.1:p.Met634HisfsTer3
ENST00000689832.1:c.1913_1914insG	ENSP00000509084.1:p.Met639HisfsTer3
ENST00000689994.1:c.1400_1401insG	ENSP00000509156.1:p.Met468HisfsTer3
ENST00000690543.1:c.1901_1902insG	ENSP00000508831.1:p.Met635HisfsTer3
ENST00000690917.1:n.2128_2129insG
ENST00000691361.1:n.820_821insG
ENST00000692783.1:c.1910_1911insG	ENSP00000508733.1:p.Met638HisfsTer3
ENST00000692991.1:n.2007_2008insG
ENST00000288135.6:c.1910_1911insG MANE Select	ENSP00000288135.6:p.Met638HisfsTer3
ENST00000288135.5:c.1910_1911insG	ENSP00000288135.5:p.Met638HisfsTer3
ENST00000412167.6:c.1898_1899insG	ENSP00000390987.2:p.Met634HisfsTer3
NM_000222.2:c.1910_1911insG , LRG_307t1:c.1910_1911insG	NP_000213.1:p.Met638HisfsTer3
NM_001093772.1:c.1898_1899insG	NP_001087241.1:p.Met634HisfsTer3
XM_005265740.1:c.1913_1914insG	XP_005265797.1:p.Met639HisfsTer3
XM_005265741.1:c.1913_1914insG	XP_005265798.1:p.Met639HisfsTer3
XM_005265742.1:c.1901_1902insG	XP_005265799.1:p.Met635HisfsTer3
XM_005265742.3:c.1901_1902insG	XP_005265799.1:p.Met635HisfsTer3
XM_017008178.1:c.1910_1911insG	XP_016863667.1:p.Met638HisfsTer3
XM_017008179.1:c.1901_1902insG	XP_016863668.1:p.Met635HisfsTer3
XM_017008180.1:c.1898_1899insG	XP_016863669.1:p.Met634HisfsTer3
NM_000222.3:c.1910_1911insG MANE Select	NP_000213.1:p.Met638HisfsTer3
NM_001093772.2:c.1898_1899insG	NP_001087241.1:p.Met634HisfsTer3
NM_001385284.1:c.1913_1914insG	NP_001372213.1:p.Met639HisfsTer3
NM_001385285.1:c.1910_1911insG	NP_001372214.1:p.Met638HisfsTer3
NM_001385286.1:c.1898_1899insG	NP_001372215.1:p.Met634HisfsTer3
NM_001385288.1:c.1901_1902insG	NP_001372217.1:p.Met635HisfsTer3
NM_001385290.1:c.1913_1914insG	NP_001372219.1:p.Met639HisfsTer3
NM_001385292.1:c.1901_1902insG	NP_001372221.1:p.Met635HisfsTer3