Canonical Allele Identifier: CA10602940

Gene: KIT

Linked Data

• ClinVar Variation Id: 280912
• ClinVar RCV Id: RCV000312421
• dbSNP Id: rs886042030
• MyVariant Identifiers: chr4:g.55602770_55602773del (hg19) ; chr4:g.54736604_54736607del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736604_54736607del , CM000666.2:g.54736604_54736607del	GRCh38
NC_000004.11:g.55602770_55602773del , CM000666.1:g.55602770_55602773del	GRCh37
NC_000004.10:g.55297527_55297530del	NCBI36
NG_007456.1:g.83610_83613del , LRG_307:g.83610_83613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2579_2582del	ENSP00000390987.3:p.Ser860Ter
ENST00000684818.1:n.1283_1286del
ENST00000685269.1:n.2669_2672del
ENST00000686011.1:c.2576_2579del	ENSP00000509704.1:p.Ser859Ter
ENST00000687109.1:c.2594_2597del	ENSP00000509371.1:p.Ser865Ter
ENST00000687208.1:n.3003_3006del
ENST00000687246.1:c.2456_2459del	ENSP00000509114.1:p.Ser819Ter
ENST00000687265.1:n.2749_2752del
ENST00000687295.1:c.2579_2582del	ENSP00000509450.1:p.Ser860Ter
ENST00000688060.1:n.388_391del
ENST00000689832.1:c.2591_2594del	ENSP00000509084.1:p.Ser864Ter
ENST00000689994.1:c.2081_2084del	ENSP00000509156.1:p.Ser694Ter
ENST00000690543.1:c.2582_2585del	ENSP00000508831.1:p.Ser861Ter
ENST00000690917.1:n.2809_2812del
ENST00000691361.1:n.1501_1504del
ENST00000692301.1:n.1283_1286del
ENST00000692783.1:c.2588_2591del	ENSP00000508733.1:p.Ser863Ter
ENST00000692991.1:n.2688_2691del
ENST00000288135.6:c.2591_2594del MANE Select	ENSP00000288135.6:p.Ser864Ter
ENST00000288135.5:c.2591_2594del	ENSP00000288135.5:p.Ser864Ter
ENST00000412167.6:c.2579_2582del	ENSP00000390987.2:p.Ser860Ter
NM_000222.2:c.2591_2594del , LRG_307t1:c.2591_2594del	NP_000213.1:p.Ser864Ter
NM_001093772.1:c.2579_2582del	NP_001087241.1:p.Ser860Ter
XM_005265740.1:c.2594_2597del	XP_005265797.1:p.Ser865Ter
XM_005265741.1:c.2591_2594del	XP_005265798.1:p.Ser864Ter
XM_005265742.1:c.2582_2585del	XP_005265799.1:p.Ser861Ter
XM_005265742.3:c.2582_2585del	XP_005265799.1:p.Ser861Ter
XM_017008178.1:c.2588_2591del	XP_016863667.1:p.Ser863Ter
XM_017008179.1:c.2579_2582del	XP_016863668.1:p.Ser860Ter
XM_017008180.1:c.2576_2579del	XP_016863669.1:p.Ser859Ter
NM_000222.3:c.2591_2594del MANE Select	NP_000213.1:p.Ser864Ter
NM_001093772.2:c.2579_2582del	NP_001087241.1:p.Ser860Ter
NM_001385284.1:c.2594_2597del	NP_001372213.1:p.Ser865Ter
NM_001385285.1:c.2588_2591del	NP_001372214.1:p.Ser863Ter
NM_001385286.1:c.2576_2579del	NP_001372215.1:p.Ser859Ter
NM_001385288.1:c.2582_2585del	NP_001372217.1:p.Ser861Ter
NM_001385290.1:c.2591_2594del	NP_001372219.1:p.Ser864Ter
NM_001385292.1:c.2579_2582del	NP_001372221.1:p.Ser860Ter