Allele Registry

Canonical Allele Identifier: CA278764

Gene: KITLG HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.88518757_88518774delinsA

GRCh37 chr12:g.88912534_88912551delinsA

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000203239

ClinVar Variation:

218887

dbSNP:

864309653

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88518757_88518774delinsA , CM000674.2:g.88518757_88518774delinsA	GRCh38
NC_000012.11:g.88912534_88912551delinsA , CM000674.1:g.88912534_88912551delinsA	GRCh37
NC_000012.10:g.87436665_87436682delinsA	NCBI36
NG_012098.1:g.66688_66705delinsT
NG_012098.2:g.66688_66705delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347404.10:c.286_303delinsT	ENSP00000054216.5:p.Ser96Ter
ENST00000644744.1:c.286_303delinsT MANE Select	ENSP00000495951.1:p.Ser96Ter
ENST00000646633.1:c.287_304delinsT	ENSP00000494139.1:n.287_304delinsT
ENST00000228280.9:c.286_303delinsT	ENSP00000228280.5:p.Ser96Ter
ENST00000347404.9:c.286_303delinsT	ENSP00000054216.5:p.Ser96Ter
ENST00000357116.4:c.-47-11637_-47-11620delinsT	ENSP00000474021.1:n.-47-11637_-47-11620delinsT
ENST00000378535.4:n.229_246delinsT
NM_000899.4:c.286_303delinsT	NP_000890.1:p.Ser96Ter
NM_003994.5:c.286_303delinsT	NP_003985.2:p.Ser96Ter
NM_000899.5:c.286_303delinsT MANE Select	NP_000890.1:p.Ser96Ter
NM_003994.6:c.286_303delinsT	NP_003985.2:p.Ser96Ter

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