Allele Registry

Canonical Allele Identifier: CA10603363

Gene: KCNB1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr20:g.49374740dupA

GRCh38 chr20:g.49374739_49374740insA

GRCh37 chr20:g.47991277dupA

GRCh37 chr20:g.47991276_47991277insA

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000275163

ClinVar Variation:

280403

dbSNP:

886041617

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49374740dup , CM000682.2:g.49374740dup	GRCh38
NC_000020.10:g.47991277dup , CM000682.1:g.47991277dup	GRCh37
NC_000020.9:g.47424684dup	NCBI36
NG_041781.1:g.112905dup
NG_041781.2:g.112905dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371741.6:c.820dup MANE Select	ENSP00000360806.3:p.Tyr274LeufsTer?
ENST00000635878.1:c.97-75357dup	ENSP00000489908.1:n.97-75357dup
ENST00000637341.1:n.206+42716dup
ENST00000371741.5:c.820dup	ENSP00000360806.3:p.Tyr274LeufsTer?
ENST00000635465.1:c.820dup	ENSP00000489193.1:p.Tyr274LeufsTer?
NM_004975.2:c.820dup	NP_004966.1:p.Tyr274LeufsTer?
XM_006723784.2:c.820dup	XP_006723847.1:p.Tyr274LeufsTer?
XM_011528799.1:c.820dup	XP_011527101.1:p.Tyr274LeufsTer?
NM_004975.3:c.820dup	NP_004966.1:p.Tyr274LeufsTer?
XM_006723784.3:c.820dup	XP_006723847.1:p.Tyr274LeufsTer?
XM_011528799.2:c.820dup	XP_011527101.1:p.Tyr274LeufsTer?
XR_001754659.1:n.156+42716dup
NM_004975.4:c.820dup MANE Select	NP_004966.1:p.Tyr274LeufsTer?

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