Canonical Allele Identifier: CA2578980544
Gene: RELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103545255_103545256del , CM000669.2:g.103545255_103545256del GRCh38
NC_000007.13:g.103185702_103185703del , CM000669.1:g.103185702_103185703del GRCh37
NC_000007.12:g.102972938_102972939del NCBI36
NG_011877.1:g.449261_449262del
NG_011877.2:g.449261_449262del

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.6391_6392del ENSP00000388446.3:p.Gln2131ValfsTer2
ENST00000428762.6:c.6391_6392del MANE Select ENSP00000392423.1:p.Gln2131ValfsTer2
ENST00000679867.1:n.6275_6276del
ENST00000679952.1:n.183_184del
ENST00000681034.1:c.6391_6392del ENSP00000506075.1:p.Gln2131ValfsTer2
ENST00000681199.1:n.2159_2160del
ENST00000343529.9:c.6391_6392del ENSP00000345694.5:p.Gln2131ValfsTer2
ENST00000424685.2:c.6391_6392del ENSP00000388446.2:p.Gln2131ValfsTer2
ENST00000428762.5:c.6391_6392del ENSP00000392423.1:p.Gln2131ValfsTer2
NM_005045.3:c.6391_6392del NP_005036.2:p.Gln2131ValfsTer2
NM_173054.2:c.6391_6392del NP_774959.1:p.Gln2131ValfsTer2
NM_005045.4:c.6391_6392del MANE Select NP_005036.2:p.Gln2131ValfsTer2
NM_173054.3:c.6391_6392del NP_774959.1:p.Gln2131ValfsTer2