Canonical Allele Identifier: CA2573141388

Gene: RELN

Linked Data

• ClinVar Variation Id: 1397755
• ClinVar RCV Id: RCV001891799
• dbSNP Id: rs2117139699

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545174del , CM000669.2:g.103545174del	GRCh38
NC_000007.13:g.103185621del , CM000669.1:g.103185621del	GRCh37
NC_000007.12:g.102972857del	NCBI36
NG_011877.1:g.449344del
NG_011877.2:g.449344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6474del	ENSP00000388446.3:p.Cys2159ValfsTer3
ENST00000428762.6:c.6474del MANE Select	ENSP00000392423.1:p.Cys2159ValfsTer3
ENST00000679867.1:n.6358del
ENST00000679952.1:n.266del
ENST00000681034.1:c.6474del	ENSP00000506075.1:p.Cys2159ValfsTer3
ENST00000681199.1:n.2242del
ENST00000343529.9:c.6474del	ENSP00000345694.5:p.Cys2159ValfsTer3
ENST00000424685.2:c.6474del	ENSP00000388446.2:p.Cys2159ValfsTer3
ENST00000428762.5:c.6474del	ENSP00000392423.1:p.Cys2159ValfsTer3
NM_005045.3:c.6474del	NP_005036.2:p.Cys2159ValfsTer3
NM_173054.2:c.6474del	NP_774959.1:p.Cys2159ValfsTer3
NM_005045.4:c.6474del MANE Select	NP_005036.2:p.Cys2159ValfsTer3
NM_173054.3:c.6474del	NP_774959.1:p.Cys2159ValfsTer3