Canonical Allele Identifier: CA645516740

Gene: KIT

Linked Data

• ClinVar Variation Id: 13855
• ClinVar RCV Id: RCV000014869
• COSMIC: COSM1164

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54727417_54727431del , CM000666.2:g.54727417_54727431del	GRCh38
NC_000004.11:g.55593583_55593597del , CM000666.1:g.55593583_55593597del	GRCh37
NC_000004.10:g.55288340_55288354del	NCBI36
NG_007456.1:g.74423_74437del , LRG_307:g.74423_74437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.1640_1654del	ENSP00000390987.3:p.Lys547_Val552delinsIle
ENST00000685269.1:n.1727_1741del
ENST00000686011.1:c.1637_1651del	ENSP00000509704.1:p.Lys546_Val551delinsIle
ENST00000687109.1:c.1652_1666del	ENSP00000509371.1:p.Lys551_Val556delinsIle
ENST00000687208.1:n.2064_2078del
ENST00000687246.1:c.1637_1651del	ENSP00000509114.1:p.Lys546_Val551delinsIle
ENST00000687265.1:n.1807_1821del
ENST00000687295.1:c.1637_1651del	ENSP00000509450.1:p.Lys546_Val551delinsIle
ENST00000689832.1:c.1652_1666del	ENSP00000509084.1:p.Lys551_Val556delinsIle
ENST00000689994.1:c.1139_1153del	ENSP00000509156.1:p.Lys380_Val385delinsIle
ENST00000690543.1:c.1640_1654del	ENSP00000508831.1:p.Lys547_Val552delinsIle
ENST00000690917.1:n.1867_1881del
ENST00000691361.1:n.559_573del
ENST00000692783.1:c.1649_1663del	ENSP00000508733.1:p.Lys550_Val555delinsIle
ENST00000692991.1:n.1746_1760del
ENST00000288135.6:c.1649_1663del MANE Select	ENSP00000288135.6:p.Lys550_Val555delinsIle
ENST00000288135.5:c.1649_1663del	ENSP00000288135.5:p.Lys550_Val555delinsIle
ENST00000412167.6:c.1637_1651del	ENSP00000390987.2:p.Lys546_Val551delinsIle
NM_000222.2:c.1649_1663del , LRG_307t1:c.1649_1663del	NP_000213.1:p.Lys550_Val555delinsIle
NM_001093772.1:c.1637_1651del	NP_001087241.1:p.Lys546_Val551delinsIle
XM_005265740.1:c.1652_1666del	XP_005265797.1:p.Lys551_Val556delinsIle
XM_005265741.1:c.1652_1666del	XP_005265798.1:p.Lys551_Val556delinsIle
XM_005265742.1:c.1640_1654del	XP_005265799.1:p.Lys547_Val552delinsIle
XM_005265742.3:c.1640_1654del	XP_005265799.1:p.Lys547_Val552delinsIle
XM_017008178.1:c.1649_1663del	XP_016863667.1:p.Lys550_Val555delinsIle
XM_017008179.1:c.1640_1654del	XP_016863668.1:p.Lys547_Val552delinsIle
XM_017008180.1:c.1637_1651del	XP_016863669.1:p.Lys546_Val551delinsIle
NM_000222.3:c.1649_1663del MANE Select	NP_000213.1:p.Lys550_Val555delinsIle
NM_001093772.2:c.1637_1651del	NP_001087241.1:p.Lys546_Val551delinsIle
NM_001385284.1:c.1652_1666del	NP_001372213.1:p.Lys551_Val556delinsIle
NM_001385285.1:c.1649_1663del	NP_001372214.1:p.Lys550_Val555delinsIle
NM_001385286.1:c.1637_1651del	NP_001372215.1:p.Lys546_Val551delinsIle
NM_001385288.1:c.1640_1654del	NP_001372217.1:p.Lys547_Val552delinsIle
NM_001385290.1:c.1652_1666del	NP_001372219.1:p.Lys551_Val556delinsIle
NM_001385292.1:c.1640_1654del	NP_001372221.1:p.Lys547_Val552delinsIle