Canonical Allele Identifier: CA551651644

Gene: KIT

Linked Data

• dbSNP Id: rs1560417835
• gnomAD v2: 4-55593786-CCTTT-C
• gnomAD v3: 4-54727620-CCTTT-C
• gnomAD v4: 4-54727620-CCTTT-C
• MyVariant Identifiers: chr4:g.55593787_55593790del (hg19) ; chr4:g.54727621_54727624del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727621_54727624del , CM000666.2:g.54727621_54727624del	GRCh38
NC_000004.11:g.55593787_55593790del , CM000666.1:g.55593787_55593790del	GRCh37
NC_000004.10:g.55288544_55288547del	NCBI36
NG_007456.1:g.74627_74630del , LRG_307:g.74627_74630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1765+79_1765+82del	ENSP00000390987.3:n.1765+79_1765+82del
ENST00000685269.1:n.1852+79_1852+82del
ENST00000686011.1:c.1762+79_1762+82del	ENSP00000509704.1:n.1762+79_1762+82del
ENST00000687109.1:c.1777+79_1777+82del	ENSP00000509371.1:n.1777+79_1777+82del
ENST00000687208.1:n.2189+79_2189+82del
ENST00000687246.1:c.1762+79_1762+82del	ENSP00000509114.1:n.1762+79_1762+82del
ENST00000687265.1:n.1932+79_1932+82del
ENST00000687295.1:c.1762+79_1762+82del	ENSP00000509450.1:n.1762+79_1762+82del
ENST00000689832.1:c.1777+79_1777+82del	ENSP00000509084.1:n.1777+79_1777+82del
ENST00000689994.1:c.1264+79_1264+82del	ENSP00000509156.1:n.1264+79_1264+82del
ENST00000690543.1:c.1765+79_1765+82del	ENSP00000508831.1:n.1765+79_1765+82del
ENST00000690917.1:n.1992+79_1992+82del
ENST00000691361.1:n.684+79_684+82del
ENST00000692783.1:c.1774+79_1774+82del	ENSP00000508733.1:n.1774+79_1774+82del
ENST00000692991.1:n.1871+79_1871+82del
ENST00000288135.6:c.1774+79_1774+82del MANE Select	ENSP00000288135.6:n.1774+79_1774+82del
ENST00000288135.5:c.1774+79_1774+82del	ENSP00000288135.5:n.1774+79_1774+82del
ENST00000412167.6:c.1762+79_1762+82del	ENSP00000390987.2:n.1762+79_1762+82del
NM_000222.2:c.1774+79_1774+82del , LRG_307t1:c.1774+79_1774+82del	NP_000213.1:n.1774+79_1774+82del
NM_001093772.1:c.1762+79_1762+82del	NP_001087241.1:n.1762+79_1762+82del
XM_005265740.1:c.1777+79_1777+82del	XP_005265797.1:n.1777+79_1777+82del
XM_005265741.1:c.1777+79_1777+82del	XP_005265798.1:n.1777+79_1777+82del
XM_005265742.1:c.1765+79_1765+82del	XP_005265799.1:n.1765+79_1765+82del
XM_005265742.3:c.1765+79_1765+82del	XP_005265799.1:n.1765+79_1765+82del
XM_017008178.1:c.1774+79_1774+82del	XP_016863667.1:n.1774+79_1774+82del
XM_017008179.1:c.1765+79_1765+82del	XP_016863668.1:n.1765+79_1765+82del
XM_017008180.1:c.1762+79_1762+82del	XP_016863669.1:n.1762+79_1762+82del
NM_000222.3:c.1774+79_1774+82del MANE Select	NP_000213.1:n.1774+79_1774+82del
NM_001093772.2:c.1762+79_1762+82del	NP_001087241.1:n.1762+79_1762+82del
NM_001385284.1:c.1777+79_1777+82del	NP_001372213.1:n.1777+79_1777+82del
NM_001385285.1:c.1774+79_1774+82del	NP_001372214.1:n.1774+79_1774+82del
NM_001385286.1:c.1762+79_1762+82del	NP_001372215.1:n.1762+79_1762+82del
NM_001385288.1:c.1765+79_1765+82del	NP_001372217.1:n.1765+79_1765+82del
NM_001385290.1:c.1777+79_1777+82del	NP_001372219.1:n.1777+79_1777+82del
NM_001385292.1:c.1765+79_1765+82del	NP_001372221.1:n.1765+79_1765+82del