Linked Data
ClinVar Variation Id:
66992
ClinVar RCV Id:
RCV000057514
dbSNP Id:
rs397518455
PubMed:
PMID:23993197
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116617290del , CM000668.2:g.116617290del | GRCh38 |
| NC_000006.11:g.116938453del , CM000668.1:g.116938453del | GRCh37 |
| NC_000006.10:g.117045146del | NCBI36 |
| NG_012934.1:g.5812del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229554.10:c.667del MANE Select | ENSP00000229554.5:p.Ser223AlafsTer15 | |
| ENST00000229554.9:c.667del | ENSP00000229554.5:p.Ser223AlafsTer15 | |
| ENST00000368580.4:c.667del | ENSP00000357569.4:p.Ser223AlafsTer15 | |
| ENST00000368581.8:c.667del | ENSP00000357570.4:p.Ser223AlafsTer15 | |
| NM_001010892.2:c.667del | NP_001010892.1:p.Ser223AlafsTer15 | |
| NM_001161664.1:c.667del | NP_001155136.1:p.Ser223AlafsTer15 | |
| XM_006715469.2:c.667del | XP_006715532.1:p.Ser223AlafsTer15 | |
| XM_011535791.1:c.667del | XP_011534093.1:p.Ser223AlafsTer15 | |
| XM_011535792.1:c.667del | XP_011534094.1:p.Ser223AlafsTer15 | |
| XR_942416.1:n.3318del | ||
| XM_017010826.1:c.667del | XP_016866315.1:p.Ser223AlafsTer15 | |
| NM_001010892.3:c.667del MANE Select | NP_001010892.1:p.Ser223AlafsTer15 | |
| NM_001161664.2:c.667del | NP_001155136.1:p.Ser223AlafsTer15 |