Canonical Allele Identifier: CA4421357

Gene: RELN

Linked Data

• ClinVar Variation Id: 358398
• ClinVar RCV Id: RCV000273179 ; RCV001510682 ; RCV001700008
• dbSNP Id: rs35268159
• ExAC: 7:103206001 G / GA
• gnomAD v2: 7-103206001-G-GA
• gnomAD v3: 7-103565554-G-GA
• gnomAD v4: 7-103565554-G-GA
• COSMIC: COSM4423494
• MyVariant Identifiers: chr7:g.103206002dupA (hg19) ; chr7:g.103206003_103206004insA (hg19) ; chr7:g.103206002_103206003insA (hg19) ; chr7:g.103206001_103206002insA (hg19) ; chr7:g.103565555dupA (hg38) ; chr7:g.103565556_103565557insA (hg38) ; chr7:g.103565555_103565556insA (hg38) ; chr7:g.103565554_103565555insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103565565dup , CM000669.2:g.103565565dup	GRCh38
NC_000007.13:g.103206012dup , CM000669.1:g.103206012dup	GRCh37
NC_000007.12:g.102993248dup	NCBI36
NG_011877.1:g.428962dup
NG_011877.2:g.428962dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.4937-4dup	ENSP00000388446.3:n.4937-4dup
ENST00000428762.6:c.4937-4dup MANE Select	ENSP00000392423.1:n.4937-4dup
ENST00000679867.1:n.4821-4dup
ENST00000680706.1:n.2640-4dup
ENST00000681034.1:c.4937-4dup	ENSP00000506075.1:n.4937-4dup
ENST00000343529.9:c.4937-4dup	ENSP00000345694.5:n.4937-4dup
ENST00000424685.2:c.4937-4dup	ENSP00000388446.2:n.4937-4dup
ENST00000428762.5:c.4937-4dup	ENSP00000392423.1:n.4937-4dup
NM_005045.3:c.4937-4dup	NP_005036.2:n.4937-4dup
NM_173054.2:c.4937-4dup	NP_774959.1:n.4937-4dup
NM_005045.4:c.4937-4dup MANE Select	NP_005036.2:n.4937-4dup
NM_173054.3:c.4937-4dup	NP_774959.1:n.4937-4dup