Canonical Allele Identifier: CA551651696

Gene: KIT

Linked Data

• dbSNP Id: rs1287875940
• gnomAD v2: 4-55602824-CTTGAAG-C
• gnomAD v4: 4-54736658-CTTGAAG-C
• MyVariant Identifiers: chr4:g.55602825_55602830del (hg19) ; chr4:g.54736659_54736664del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736661_54736666del , CM000666.2:g.54736661_54736666del	GRCh38
NC_000004.11:g.55602827_55602832del , CM000666.1:g.55602827_55602832del	GRCh37
NC_000004.10:g.55297584_55297589del	NCBI36
NG_007456.1:g.83667_83672del , LRG_307:g.83667_83672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2584+52_2585-55del	ENSP00000390987.3:n.2584+52_2585-55del
ENST00000684818.1:n.1288+52_1289-55del
ENST00000685269.1:n.2674+52_2675-55del
ENST00000686011.1:c.2581+52_2582-55del	ENSP00000509704.1:n.2581+52_2582-55del
ENST00000687109.1:c.2599+52_2600-55del	ENSP00000509371.1:n.2599+52_2600-55del
ENST00000687208.1:n.3008+52_3009-55del
ENST00000687246.1:c.2461+52_2462-55del	ENSP00000509114.1:n.2461+52_2462-55del
ENST00000687265.1:n.2754+52_2755-55del
ENST00000687295.1:c.2584+52_2585-55del	ENSP00000509450.1:n.2584+52_2585-55del
ENST00000688060.1:n.393+52_394-55del
ENST00000689832.1:c.2596+52_2597-55del	ENSP00000509084.1:n.2596+52_2597-55del
ENST00000689994.1:c.2086+52_2087-55del	ENSP00000509156.1:n.2086+52_2087-55del
ENST00000690543.1:c.2587+52_2588-55del	ENSP00000508831.1:n.2587+52_2588-55del
ENST00000690917.1:n.2814+52_2815-55del
ENST00000691361.1:n.1506+52_1507-55del
ENST00000692301.1:n.1288+52_1289-55del
ENST00000692783.1:c.2593+52_2594-55del	ENSP00000508733.1:n.2593+52_2594-55del
ENST00000692991.1:n.2693+52_2694-55del
ENST00000288135.6:c.2596+52_2597-55del MANE Select	ENSP00000288135.6:n.2596+52_2597-55del
ENST00000288135.5:c.2596+52_2597-55del	ENSP00000288135.5:n.2596+52_2597-55del
ENST00000412167.6:c.2584+52_2585-55del	ENSP00000390987.2:n.2584+52_2585-55del
NM_000222.2:c.2596+52_2597-55del , LRG_307t1:c.2596+52_2597-55del	NP_000213.1:n.2596+52_2597-55del
NM_001093772.1:c.2584+52_2585-55del	NP_001087241.1:n.2584+52_2585-55del
XM_005265740.1:c.2599+52_2600-55del	XP_005265797.1:n.2599+52_2600-55del
XM_005265741.1:c.2596+52_2597-55del	XP_005265798.1:n.2596+52_2597-55del
XM_005265742.1:c.2587+52_2588-55del	XP_005265799.1:n.2587+52_2588-55del
XM_005265742.3:c.2587+52_2588-55del	XP_005265799.1:n.2587+52_2588-55del
XM_017008178.1:c.2593+52_2594-55del	XP_016863667.1:n.2593+52_2594-55del
XM_017008179.1:c.2584+52_2585-55del	XP_016863668.1:n.2584+52_2585-55del
XM_017008180.1:c.2581+52_2582-55del	XP_016863669.1:n.2581+52_2582-55del
NM_000222.3:c.2596+52_2597-55del MANE Select	NP_000213.1:n.2596+52_2597-55del
NM_001093772.2:c.2584+52_2585-55del	NP_001087241.1:n.2584+52_2585-55del
NM_001385284.1:c.2599+52_2600-55del	NP_001372213.1:n.2599+52_2600-55del
NM_001385285.1:c.2593+52_2594-55del	NP_001372214.1:n.2593+52_2594-55del
NM_001385286.1:c.2581+52_2582-55del	NP_001372215.1:n.2581+52_2582-55del
NM_001385288.1:c.2587+52_2588-55del	NP_001372217.1:n.2587+52_2588-55del
NM_001385290.1:c.2596+52_2597-55del	NP_001372219.1:n.2596+52_2597-55del
NM_001385292.1:c.2584+52_2585-55del	NP_001372221.1:n.2584+52_2585-55del