Canonical Allele Identifier: CA2715516311
Gene: RELN HGNC NCBI

Linked Data

dbSNP Id: rs2117139714

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103545178del , CM000669.2:g.103545178del GRCh38
NC_000007.13:g.103185625del , CM000669.1:g.103185625del GRCh37
NC_000007.12:g.102972861del NCBI36
NG_011877.1:g.449340del
NG_011877.2:g.449340del

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.6470del ENSP00000388446.3:p.Pro2157GlnfsTer5
ENST00000428762.6:c.6470del MANE Select ENSP00000392423.1:p.Pro2157GlnfsTer5
ENST00000679867.1:n.6354del
ENST00000679952.1:n.262del
ENST00000681034.1:c.6470del ENSP00000506075.1:p.Pro2157GlnfsTer5
ENST00000681199.1:n.2238del
ENST00000343529.9:c.6470del ENSP00000345694.5:p.Pro2157GlnfsTer5
ENST00000424685.2:c.6470del ENSP00000388446.2:p.Pro2157GlnfsTer5
ENST00000428762.5:c.6470del ENSP00000392423.1:p.Pro2157GlnfsTer5
NM_005045.3:c.6470del NP_005036.2:p.Pro2157GlnfsTer5
NM_173054.2:c.6470del NP_774959.1:p.Pro2157GlnfsTer5
NM_005045.4:c.6470del MANE Select NP_005036.2:p.Pro2157GlnfsTer5
NM_173054.3:c.6470del NP_774959.1:p.Pro2157GlnfsTer5