Canonical Allele Identifier: CA2715516408

Gene: RELN

Linked Data

• dbSNP Id: rs2117139929

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545258_103545259del , CM000669.2:g.103545258_103545259del	GRCh38
NC_000007.13:g.103185705_103185706del , CM000669.1:g.103185705_103185706del	GRCh37
NC_000007.12:g.102972941_102972942del	NCBI36
NG_011877.1:g.449260_449261del
NG_011877.2:g.449260_449261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6390_6391del	ENSP00000388446.3:p.Gln2131ValfsTer2
ENST00000428762.6:c.6390_6391del MANE Select	ENSP00000392423.1:p.Gln2131ValfsTer2
ENST00000679867.1:n.6274_6275del
ENST00000679952.1:n.182_183del
ENST00000681034.1:c.6390_6391del	ENSP00000506075.1:p.Gln2131ValfsTer2
ENST00000681199.1:n.2158_2159del
ENST00000343529.9:c.6390_6391del	ENSP00000345694.5:p.Gln2131ValfsTer2
ENST00000424685.2:c.6390_6391del	ENSP00000388446.2:p.Gln2131ValfsTer2
ENST00000428762.5:c.6390_6391del	ENSP00000392423.1:p.Gln2131ValfsTer2
NM_005045.3:c.6390_6391del	NP_005036.2:p.Gln2131ValfsTer2
NM_173054.2:c.6390_6391del	NP_774959.1:p.Gln2131ValfsTer2
NM_005045.4:c.6390_6391del MANE Select	NP_005036.2:p.Gln2131ValfsTer2
NM_173054.3:c.6390_6391del	NP_774959.1:p.Gln2131ValfsTer2