Canonical Allele Identifier: CA2697546727

Gene: KIT

Linked Data

• ClinVar Variation Id: 2770878
• ClinVar RCV Id: RCV003526588

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733154_54733155del , CM000666.2:g.54733154_54733155del	GRCh38
NC_000004.11:g.55599320_55599321del , CM000666.1:g.55599320_55599321del	GRCh37
NC_000004.10:g.55294077_55294078del	NCBI36
NG_007456.1:g.80160_80161del , LRG_307:g.80160_80161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2434_2435del	ENSP00000390987.3:p.Asp812HisfsTer4
ENST00000685269.1:n.2524_2525del
ENST00000686011.1:c.2431_2432del	ENSP00000509704.1:p.Asp811HisfsTer4
ENST00000687109.1:c.2449_2450del	ENSP00000509371.1:p.Asp817HisfsTer4
ENST00000687208.1:n.2858_2859del
ENST00000687246.1:c.2349+1156_2349+1157del	ENSP00000509114.1:n.2349+1156_2349+1157del
ENST00000687265.1:n.2604_2605del
ENST00000687295.1:c.2434_2435del	ENSP00000509450.1:p.Asp812HisfsTer4
ENST00000688060.1:n.243_244del
ENST00000688704.1:n.1458_1459del
ENST00000689832.1:c.2446_2447del	ENSP00000509084.1:p.Asp816HisfsTer4
ENST00000689994.1:c.1936_1937del	ENSP00000509156.1:p.Asp646HisfsTer4
ENST00000690543.1:c.2437_2438del	ENSP00000508831.1:p.Asp813HisfsTer4
ENST00000690917.1:n.2664_2665del
ENST00000691361.1:n.1356_1357del
ENST00000692783.1:c.2443_2444del	ENSP00000508733.1:p.Asp815HisfsTer4
ENST00000692991.1:n.2543_2544del
ENST00000288135.6:c.2446_2447del MANE Select	ENSP00000288135.6:p.Asp816HisfsTer4
ENST00000288135.5:c.2446_2447del	ENSP00000288135.5:p.Asp816HisfsTer4
ENST00000412167.6:c.2434_2435del	ENSP00000390987.2:p.Asp812HisfsTer4
ENST00000512959.1:n.499_500del
NM_000222.2:c.2446_2447del , LRG_307t1:c.2446_2447del	NP_000213.1:p.Asp816HisfsTer4
NM_001093772.1:c.2434_2435del	NP_001087241.1:p.Asp812HisfsTer4
XM_005265740.1:c.2449_2450del	XP_005265797.1:p.Asp817HisfsTer4
XM_005265741.1:c.2446_2447del	XP_005265798.1:p.Asp816HisfsTer4
XM_005265742.1:c.2437_2438del	XP_005265799.1:p.Asp813HisfsTer4
XM_005265742.3:c.2437_2438del	XP_005265799.1:p.Asp813HisfsTer4
XM_017008178.1:c.2443_2444del	XP_016863667.1:p.Asp815HisfsTer4
XM_017008179.1:c.2434_2435del	XP_016863668.1:p.Asp812HisfsTer4
XM_017008180.1:c.2431_2432del	XP_016863669.1:p.Asp811HisfsTer4
NM_000222.3:c.2446_2447del MANE Select	NP_000213.1:p.Asp816HisfsTer4
NM_001093772.2:c.2434_2435del	NP_001087241.1:p.Asp812HisfsTer4
NM_001385284.1:c.2449_2450del	NP_001372213.1:p.Asp817HisfsTer4
NM_001385285.1:c.2443_2444del	NP_001372214.1:p.Asp815HisfsTer4
NM_001385286.1:c.2431_2432del	NP_001372215.1:p.Asp811HisfsTer4
NM_001385288.1:c.2437_2438del	NP_001372217.1:p.Asp813HisfsTer4
NM_001385290.1:c.2446_2447del	NP_001372219.1:p.Asp816HisfsTer4
NM_001385292.1:c.2434_2435del	NP_001372221.1:p.Asp812HisfsTer4