Canonical Allele Identifier: CA236458
Gene: RELN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103539227_103539228del , CM000669.2:g.103539227_103539228del GRCh38
NC_000007.13:g.103179674_103179675del , CM000669.1:g.103179674_103179675del GRCh37
NC_000007.12:g.102966910_102966911del NCBI36
NG_011877.1:g.455289_455290del
NG_011877.2:g.455289_455290del

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.7030_7031del ENSP00000388446.3:p.Met2344AlafsTer8
ENST00000428762.6:c.7030_7031del MANE Select ENSP00000392423.1:p.Met2344AlafsTer8
ENST00000478148.2:n.271_272del
ENST00000679867.1:n.6914_6915del
ENST00000679952.1:n.822_823del
ENST00000681034.1:c.7030_7031del ENSP00000506075.1:p.Met2344AlafsTer8
ENST00000681315.1:n.910_911del
ENST00000681364.1:n.279_280del
ENST00000343529.9:c.7030_7031del ENSP00000345694.5:p.Met2344AlafsTer8
ENST00000424685.2:c.7030_7031del ENSP00000388446.2:p.Met2344AlafsTer8
ENST00000428762.5:c.7030_7031del ENSP00000392423.1:p.Met2344AlafsTer8
ENST00000478148.1:n.261_262del
NM_005045.3:c.7030_7031del NP_005036.2:p.Met2344AlafsTer8
NM_173054.2:c.7030_7031del NP_774959.1:p.Met2344AlafsTer8
NM_005045.4:c.7030_7031del MANE Select NP_005036.2:p.Met2344AlafsTer8
NM_173054.3:c.7030_7031del NP_774959.1:p.Met2344AlafsTer8