Canonical Allele Identifier: CA2578090170

Gene: KIT

Linked Data

• gnomAD v4: 4-54736647-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54736650_54736651del , CM000666.2:g.54736650_54736651del	GRCh38
NC_000004.11:g.55602816_55602817del , CM000666.1:g.55602816_55602817del	GRCh37
NC_000004.10:g.55297573_55297574del	NCBI36
NG_007456.1:g.83656_83657del , LRG_307:g.83656_83657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2584+41_2584+42del	ENSP00000390987.3:n.2584+41_2584+42del
ENST00000684818.1:n.1288+41_1288+42del
ENST00000685269.1:n.2674+41_2674+42del
ENST00000686011.1:c.2581+41_2581+42del	ENSP00000509704.1:n.2581+41_2581+42del
ENST00000687109.1:c.2599+41_2599+42del	ENSP00000509371.1:n.2599+41_2599+42del
ENST00000687208.1:n.3008+41_3008+42del
ENST00000687246.1:c.2461+41_2461+42del	ENSP00000509114.1:n.2461+41_2461+42del
ENST00000687265.1:n.2754+41_2754+42del
ENST00000687295.1:c.2584+41_2584+42del	ENSP00000509450.1:n.2584+41_2584+42del
ENST00000688060.1:n.393+41_393+42del
ENST00000689832.1:c.2596+41_2596+42del	ENSP00000509084.1:n.2596+41_2596+42del
ENST00000689994.1:c.2086+41_2086+42del	ENSP00000509156.1:n.2086+41_2086+42del
ENST00000690543.1:c.2587+41_2587+42del	ENSP00000508831.1:n.2587+41_2587+42del
ENST00000690917.1:n.2814+41_2814+42del
ENST00000691361.1:n.1506+41_1506+42del
ENST00000692301.1:n.1288+41_1288+42del
ENST00000692783.1:c.2593+41_2593+42del	ENSP00000508733.1:n.2593+41_2593+42del
ENST00000692991.1:n.2693+41_2693+42del
ENST00000288135.6:c.2596+41_2596+42del MANE Select	ENSP00000288135.6:n.2596+41_2596+42del
ENST00000288135.5:c.2596+41_2596+42del	ENSP00000288135.5:n.2596+41_2596+42del
ENST00000412167.6:c.2584+41_2584+42del	ENSP00000390987.2:n.2584+41_2584+42del
NM_000222.2:c.2596+41_2596+42del , LRG_307t1:c.2596+41_2596+42del	NP_000213.1:n.2596+41_2596+42del
NM_001093772.1:c.2584+41_2584+42del	NP_001087241.1:n.2584+41_2584+42del
XM_005265740.1:c.2599+41_2599+42del	XP_005265797.1:n.2599+41_2599+42del
XM_005265741.1:c.2596+41_2596+42del	XP_005265798.1:n.2596+41_2596+42del
XM_005265742.1:c.2587+41_2587+42del	XP_005265799.1:n.2587+41_2587+42del
XM_005265742.3:c.2587+41_2587+42del	XP_005265799.1:n.2587+41_2587+42del
XM_017008178.1:c.2593+41_2593+42del	XP_016863667.1:n.2593+41_2593+42del
XM_017008179.1:c.2584+41_2584+42del	XP_016863668.1:n.2584+41_2584+42del
XM_017008180.1:c.2581+41_2581+42del	XP_016863669.1:n.2581+41_2581+42del
NM_000222.3:c.2596+41_2596+42del MANE Select	NP_000213.1:n.2596+41_2596+42del
NM_001093772.2:c.2584+41_2584+42del	NP_001087241.1:n.2584+41_2584+42del
NM_001385284.1:c.2599+41_2599+42del	NP_001372213.1:n.2599+41_2599+42del
NM_001385285.1:c.2593+41_2593+42del	NP_001372214.1:n.2593+41_2593+42del
NM_001385286.1:c.2581+41_2581+42del	NP_001372215.1:n.2581+41_2581+42del
NM_001385288.1:c.2587+41_2587+42del	NP_001372217.1:n.2587+41_2587+42del
NM_001385290.1:c.2596+41_2596+42del	NP_001372219.1:n.2596+41_2596+42del
NM_001385292.1:c.2584+41_2584+42del	NP_001372221.1:n.2584+41_2584+42del