Linked Data
ClinVar Variation Id:
203643
ClinVar RCV Id:
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)
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_-87-43031de... | |
| 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 |