Canonical Allele Identifier: CA551369919

Gene: KIT

Linked Data

• dbSNP Id: rs1560422498
• gnomAD v2: 4-55599639-GAA-G
• gnomAD v3: 4-54733473-GAA-G
• gnomAD v4: 4-54733473-GAA-G
• MyVariant Identifiers: chr4:g.55599640_55599641del (hg19) ; chr4:g.54733474_54733475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54733474_54733475del , CM000666.2:g.54733474_54733475del	GRCh38
NC_000004.11:g.55599640_55599641del , CM000666.1:g.55599640_55599641del	GRCh37
NC_000004.10:g.55294397_55294398del	NCBI36
NG_007456.1:g.80480_80481del , LRG_307:g.80480_80481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412167.7:c.2472+282_2472+283del	ENSP00000390987.3:n.2472+282_2472+283del
ENST00000685269.1:n.2562+282_2562+283del
ENST00000686011.1:c.2469+282_2469+283del	ENSP00000509704.1:n.2469+282_2469+283del
ENST00000687109.1:c.2487+282_2487+283del	ENSP00000509371.1:n.2487+282_2487+283del
ENST00000687208.1:n.2896+282_2896+283del
ENST00000687246.1:c.2349+1476_2349+1477del	ENSP00000509114.1:n.2349+1476_2349+1477del
ENST00000687265.1:n.2642+282_2642+283del
ENST00000687295.1:c.2472+282_2472+283del	ENSP00000509450.1:n.2472+282_2472+283del
ENST00000688060.1:n.281+282_281+283del
ENST00000688704.1:n.1778_1779del
ENST00000689832.1:c.2484+282_2484+283del	ENSP00000509084.1:n.2484+282_2484+283del
ENST00000689994.1:c.1974+282_1974+283del	ENSP00000509156.1:n.1974+282_1974+283del
ENST00000690543.1:c.2475+282_2475+283del	ENSP00000508831.1:n.2475+282_2475+283del
ENST00000690917.1:n.2702+282_2702+283del
ENST00000691361.1:n.1394+282_1394+283del
ENST00000692783.1:c.2481+282_2481+283del	ENSP00000508733.1:n.2481+282_2481+283del
ENST00000692991.1:n.2581+282_2581+283del
ENST00000288135.6:c.2484+282_2484+283del MANE Select	ENSP00000288135.6:n.2484+282_2484+283del
ENST00000288135.5:c.2484+282_2484+283del	ENSP00000288135.5:n.2484+282_2484+283del
ENST00000412167.6:c.2472+282_2472+283del	ENSP00000390987.2:n.2472+282_2472+283del
NM_000222.2:c.2484+282_2484+283del , LRG_307t1:c.2484+282_2484+283del	NP_000213.1:n.2484+282_2484+283del
NM_001093772.1:c.2472+282_2472+283del	NP_001087241.1:n.2472+282_2472+283del
XM_005265740.1:c.2487+282_2487+283del	XP_005265797.1:n.2487+282_2487+283del
XM_005265741.1:c.2484+282_2484+283del	XP_005265798.1:n.2484+282_2484+283del
XM_005265742.1:c.2475+282_2475+283del	XP_005265799.1:n.2475+282_2475+283del
XM_005265742.3:c.2475+282_2475+283del	XP_005265799.1:n.2475+282_2475+283del
XM_017008178.1:c.2481+282_2481+283del	XP_016863667.1:n.2481+282_2481+283del
XM_017008179.1:c.2472+282_2472+283del	XP_016863668.1:n.2472+282_2472+283del
XM_017008180.1:c.2469+282_2469+283del	XP_016863669.1:n.2469+282_2469+283del
NM_000222.3:c.2484+282_2484+283del MANE Select	NP_000213.1:n.2484+282_2484+283del
NM_001093772.2:c.2472+282_2472+283del	NP_001087241.1:n.2472+282_2472+283del
NM_001385284.1:c.2487+282_2487+283del	NP_001372213.1:n.2487+282_2487+283del
NM_001385285.1:c.2481+282_2481+283del	NP_001372214.1:n.2481+282_2481+283del
NM_001385286.1:c.2469+282_2469+283del	NP_001372215.1:n.2469+282_2469+283del
NM_001385288.1:c.2475+282_2475+283del	NP_001372217.1:n.2475+282_2475+283del
NM_001385290.1:c.2484+282_2484+283del	NP_001372219.1:n.2484+282_2484+283del
NM_001385292.1:c.2472+282_2472+283del	NP_001372221.1:n.2472+282_2472+283del