Canonical Allele Identifier: CA2670659536

Gene: KIT

Linked Data

• gnomAD v4: 4-54727323-A-AAATAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727323_54727324insAATAAAT , CM000666.2:g.54727323_54727324insAATAAAT	GRCh38
NC_000004.11:g.55593489_55593490insAATAAAT , CM000666.1:g.55593489_55593490insAATAAAT	GRCh37
NC_000004.10:g.55288246_55288247insAATAAAT	NCBI36
NG_007456.1:g.74329_74330insAATAAAT , LRG_307:g.74329_74330insAATAAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000412167.7:c.1637_1638insAATAAAT	ENSP00000390987.3:p.Lys547IlefsTer7
ENST00000685269.1:n.1724_1725insAATAAAT
ENST00000686011.1:c.1634_1635insAATAAAT	ENSP00000509704.1:p.Lys546IlefsTer7
ENST00000687109.1:c.1649_1650insAATAAAT	ENSP00000509371.1:p.Lys551IlefsTer7
ENST00000687208.1:n.2061_2062insAATAAAT
ENST00000687246.1:c.1634_1635insAATAAAT	ENSP00000509114.1:p.Lys546IlefsTer7
ENST00000687265.1:n.1804_1805insAATAAAT
ENST00000687295.1:c.1634_1635insAATAAAT	ENSP00000509450.1:p.Lys546IlefsTer7
ENST00000689832.1:c.1649_1650insAATAAAT	ENSP00000509084.1:p.Lys551IlefsTer7
ENST00000689994.1:c.1136_1137insAATAAAT	ENSP00000509156.1:p.Lys380IlefsTer7
ENST00000690543.1:c.1637_1638insAATAAAT	ENSP00000508831.1:p.Lys547IlefsTer7
ENST00000690917.1:n.1864_1865insAATAAAT
ENST00000691361.1:n.556_557insAATAAAT
ENST00000692783.1:c.1646_1647insAATAAAT	ENSP00000508733.1:p.Lys550IlefsTer7
ENST00000692991.1:n.1743_1744insAATAAAT
ENST00000288135.6:c.1646_1647insAATAAAT MANE Select	ENSP00000288135.6:p.Lys550IlefsTer7
ENST00000288135.5:c.1646_1647insAATAAAT	ENSP00000288135.5:p.Lys550IlefsTer7
ENST00000412167.6:c.1634_1635insAATAAAT	ENSP00000390987.2:p.Lys546IlefsTer7
NM_000222.2:c.1646_1647insAATAAAT , LRG_307t1:c.1646_1647insAATAAAT	NP_000213.1:p.Lys550IlefsTer7
NM_001093772.1:c.1634_1635insAATAAAT	NP_001087241.1:p.Lys546IlefsTer7
XM_005265740.1:c.1649_1650insAATAAAT	XP_005265797.1:p.Lys551IlefsTer7
XM_005265741.1:c.1649_1650insAATAAAT	XP_005265798.1:p.Lys551IlefsTer7
XM_005265742.1:c.1637_1638insAATAAAT	XP_005265799.1:p.Lys547IlefsTer7
XM_005265742.3:c.1637_1638insAATAAAT	XP_005265799.1:p.Lys547IlefsTer7
XM_017008178.1:c.1646_1647insAATAAAT	XP_016863667.1:p.Lys550IlefsTer7
XM_017008179.1:c.1637_1638insAATAAAT	XP_016863668.1:p.Lys547IlefsTer7
XM_017008180.1:c.1634_1635insAATAAAT	XP_016863669.1:p.Lys546IlefsTer7
NM_000222.3:c.1646_1647insAATAAAT MANE Select	NP_000213.1:p.Lys550IlefsTer7
NM_001093772.2:c.1634_1635insAATAAAT	NP_001087241.1:p.Lys546IlefsTer7
NM_001385284.1:c.1649_1650insAATAAAT	NP_001372213.1:p.Lys551IlefsTer7
NM_001385285.1:c.1646_1647insAATAAAT	NP_001372214.1:p.Lys550IlefsTer7
NM_001385286.1:c.1634_1635insAATAAAT	NP_001372215.1:p.Lys546IlefsTer7
NM_001385288.1:c.1637_1638insAATAAAT	NP_001372217.1:p.Lys547IlefsTer7
NM_001385290.1:c.1649_1650insAATAAAT	NP_001372219.1:p.Lys551IlefsTer7
NM_001385292.1:c.1637_1638insAATAAAT	NP_001372221.1:p.Lys547IlefsTer7