Canonical Allele Identifier: CA830794259

Gene: RELN

Linked Data

• ClinVar Variation Id: 1432847
• ClinVar RCV Id: RCV001982112
• dbSNP Id: rs1420723549
• gnomAD v4: 7-103545244-TCTC-T
• MyVariant Identifiers: chr7:g.103185692_103185694del (hg19) ; chr7:g.103545245_103545247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545248_103545250del , CM000669.2:g.103545248_103545250del	GRCh38
NC_000007.13:g.103185695_103185697del , CM000669.1:g.103185695_103185697del	GRCh37
NC_000007.12:g.102972931_102972933del	NCBI36
NG_011877.1:g.449270_449272del
NG_011877.2:g.449270_449272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6400_6402del	ENSP00000388446.3:p.Glu2134del
ENST00000428762.6:c.6400_6402del MANE Select	ENSP00000392423.1:p.Glu2134del
ENST00000679867.1:n.6284_6286del
ENST00000679952.1:n.192_194del
ENST00000681034.1:c.6400_6402del	ENSP00000506075.1:p.Glu2134del
ENST00000681199.1:n.2168_2170del
ENST00000343529.9:c.6400_6402del	ENSP00000345694.5:p.Glu2134del
ENST00000424685.2:c.6400_6402del	ENSP00000388446.2:p.Glu2134del
ENST00000428762.5:c.6400_6402del	ENSP00000392423.1:p.Glu2134del
NM_005045.3:c.6400_6402del	NP_005036.2:p.Glu2134del
NM_173054.2:c.6400_6402del	NP_774959.1:p.Glu2134del
NM_005045.4:c.6400_6402del MANE Select	NP_005036.2:p.Glu2134del
NM_173054.3:c.6400_6402del	NP_774959.1:p.Glu2134del