Canonical Allele Identifier: CA2573141394

Gene: RELN

Linked Data

• ClinVar Variation Id: 1447834
• ClinVar RCV Id: RCV001996943
• dbSNP Id: rs2117348851

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103635526del , CM000669.2:g.103635526del	GRCh38
NC_000007.13:g.103275973del , CM000669.1:g.103275973del	GRCh37
NC_000007.12:g.103063209del	NCBI36
NG_011877.1:g.358991del
NG_011877.2:g.358991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.2364del	ENSP00000388446.3:p.Asp789IlefsTer17
ENST00000428762.6:c.2364del MANE Select	ENSP00000392423.1:p.Asp789IlefsTer17
ENST00000473457.2:n.2628del
ENST00000679867.1:n.2248del
ENST00000680706.1:n.67del
ENST00000680712.1:n.2081del
ENST00000681034.1:c.2364del	ENSP00000506075.1:p.Asp789IlefsTer17
ENST00000343529.9:c.2364del	ENSP00000345694.5:p.Asp789IlefsTer17
ENST00000424685.2:c.2364del	ENSP00000388446.2:p.Asp789IlefsTer17
ENST00000428762.5:c.2364del	ENSP00000392423.1:p.Asp789IlefsTer17
NM_005045.3:c.2364del	NP_005036.2:p.Asp789IlefsTer17
NM_173054.2:c.2364del	NP_774959.1:p.Asp789IlefsTer17
NM_005045.4:c.2364del MANE Select	NP_005036.2:p.Asp789IlefsTer17
NM_173054.3:c.2364del	NP_774959.1:p.Asp789IlefsTer17