Allele Registry

Canonical Allele Identifier: CA205332

Gene: RELN HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr7:g.103917083dupA

GRCh38 chr7:g.103917082_103917083insA

GRCh37 chr7:g.103557530dupA

GRCh37 chr7:g.103557529_103557530insA

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000192487

ClinVar Variation:

212035

dbSNP:

797045912

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103917085dup , CM000669.2:g.103917085dup	GRCh38
NC_000007.13:g.103557532dup , CM000669.1:g.103557532dup	GRCh37
NC_000007.12:g.103344768dup	NCBI36
NG_011877.1:g.77434dup
NG_011877.2:g.77434dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.329dup	ENSP00000388446.3:p.Gly111ArgfsTer7
ENST00000428762.6:c.329dup MANE Select	ENSP00000392423.1:p.Gly111ArgfsTer7
ENST00000473457.2:n.593dup
ENST00000679689.1:n.489dup
ENST00000679867.1:n.213dup
ENST00000680712.1:n.143dup
ENST00000681034.1:c.329dup	ENSP00000506075.1:p.Gly111ArgfsTer7
ENST00000681182.1:n.580dup
ENST00000681401.1:n.605dup
ENST00000681931.1:n.213dup
ENST00000343529.9:c.329dup	ENSP00000345694.5:p.Gly111ArgfsTer7
ENST00000424685.2:c.329dup	ENSP00000388446.2:p.Gly111ArgfsTer7
ENST00000428762.5:c.329dup	ENSP00000392423.1:p.Gly111ArgfsTer7
NM_005045.3:c.329dup	NP_005036.2:p.Gly111ArgfsTer7
NM_173054.2:c.329dup	NP_774959.1:p.Gly111ArgfsTer7
NM_005045.4:c.329dup MANE Select	NP_005036.2:p.Gly111ArgfsTer7
NM_173054.3:c.329dup	NP_774959.1:p.Gly111ArgfsTer7

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