Canonical Allele Identifier: CA2580076061

Gene: RELN

Linked Data

• ClinVar Variation Id: 1998872
• ClinVar RCV Id: RCV002814980

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545307_103545311dup , CM000669.2:g.103545307_103545311dup	GRCh38
NC_000007.13:g.103185754_103185758dup , CM000669.1:g.103185754_103185758dup	GRCh37
NC_000007.12:g.102972990_102972994dup	NCBI36
NG_011877.1:g.449208_449212dup
NG_011877.2:g.449208_449212dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6338_6342dup	ENSP00000388446.3:p.Gly2115LeufsTer7
ENST00000428762.6:c.6338_6342dup MANE Select	ENSP00000392423.1:p.Gly2115LeufsTer7
ENST00000679867.1:n.6222_6226dup
ENST00000679952.1:n.130_134dup
ENST00000681034.1:c.6338_6342dup	ENSP00000506075.1:p.Gly2115LeufsTer7
ENST00000681199.1:n.2106_2110dup
ENST00000343529.9:c.6338_6342dup	ENSP00000345694.5:p.Gly2115LeufsTer7
ENST00000424685.2:c.6338_6342dup	ENSP00000388446.2:p.Gly2115LeufsTer7
ENST00000428762.5:c.6338_6342dup	ENSP00000392423.1:p.Gly2115LeufsTer7
NM_005045.3:c.6338_6342dup	NP_005036.2:p.Gly2115LeufsTer7
NM_173054.2:c.6338_6342dup	NP_774959.1:p.Gly2115LeufsTer7
NM_005045.4:c.6338_6342dup MANE Select	NP_005036.2:p.Gly2115LeufsTer7
NM_173054.3:c.6338_6342dup	NP_774959.1:p.Gly2115LeufsTer7