Canonical Allele Identifier: CA312377

Gene: CD320 ELAVL1

Linked Data

• ClinVar Variation Id: 203643
• ClinVar RCV Id: RCV000004499 ; RCV000224888 ; RCV003398922
• dbSNP Id: rs150384171
• ExAC: 19:8369918 ACTC / A
• gnomAD v2: 19-8369918-ACTC-A
• gnomAD v3: 19-8305034-ACTC-A
• gnomAD v4: 19-8305034-ACTC-A
• COSMIC: COSM1684559
• MyVariant Identifiers: chr19:g.8369919_8369921del (hg19) ; chr19:g.8305036_8305038del (hg38) ; chr19:g.8305035_8305037del (hg38)
• PubMed: PMID:20524213 ; PMID:22819238

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8305041_8305043del , CM000681.2:g.8305041_8305043del	GRCh38
NC_000019.9:g.8369925_8369927del , CM000681.1:g.8369925_8369927del	GRCh37
NC_000019.8:g.8275925_8275927del	NCBI36
NG_028124.1:g.8320_8322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301458.10:c.262_264del (CD320) MANE Select	ENSP00000301458.4:p.Glu88del
ENST00000301458.9:c.262_264del (CD320)	ENSP00000301458.4:p.Glu88del
ENST00000351593.9:c.-87-43033_-87-43031del (ELAVL1)	ENSP00000264073.6:n.-87-43033_-87-43031del
ENST00000537716.6:c.143-949_143-947del (CD320)	ENSP00000437697.1:n.143-949_143-947del
ENST00000596002.5:c.*665_*667del (CD320)	ENSP00000471773.1:n.*665_*667del
ENST00000598299.1:n.307_309del (CD320)
ENST00000599573.1:c.243_245del (CD320)
NM_001165895.1:c.143-949_143-947del (CD320)	NP_001159367.1:n.143-949_143-947del
NM_016579.3:c.262_264del (CD320)	NP_057663.1:p.Glu88del
NM_016579.4:c.262_264del (CD320) MANE Select	NP_057663.1:p.Glu88del
NM_001165895.2:c.143-949_143-947del (CD320)	NP_001159367.1:n.143-949_143-947del