Allele Registry

Canonical Allele Identifier: CA278767

Gene: KITLG HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.88518858_88518860del

GRCh37 chr12:g.88912635_88912637del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000203244

ClinVar Variation:

218888

dbSNP:

864309654

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88518858_88518860del , CM000674.2:g.88518858_88518860del	GRCh38
NC_000012.11:g.88912635_88912637del , CM000674.1:g.88912635_88912637del	GRCh37
NC_000012.10:g.87436766_87436768del	NCBI36
NG_012098.1:g.66602_66604del
NG_012098.2:g.66602_66604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347404.10:c.200_202del	ENSP00000054216.5:p.His67_Cys68delinsArg
ENST00000644744.1:c.200_202del MANE Select	ENSP00000495951.1:p.His67_Cys68delinsArg
ENST00000646633.1:c.201_203del	ENSP00000494139.1:n.201_203del
ENST00000228280.9:c.200_202del	ENSP00000228280.5:p.His67_Cys68delinsArg
ENST00000347404.9:c.200_202del	ENSP00000054216.5:p.His67_Cys68delinsArg
ENST00000357116.4:c.-47-11723_-47-11721del	ENSP00000474021.1:n.-47-11723_-47-11721del
ENST00000378535.4:n.143_145del
ENST00000552044.1:c.47_49del	ENSP00000475042.1:p.His16_Cys17delinsArg
NM_000899.4:c.200_202del	NP_000890.1:p.His67_Cys68delinsArg
NM_003994.5:c.200_202del	NP_003985.2:p.His67_Cys68delinsArg
NM_000899.5:c.200_202del MANE Select	NP_000890.1:p.His67_Cys68delinsArg
NM_003994.6:c.200_202del	NP_003985.2:p.His67_Cys68delinsArg

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