Linked Data
dbSNP Id:
rs2102736351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432774del , CM000663.2:g.229432774del | GRCh38 |
| NC_000001.10:g.229568521del , CM000663.1:g.229568521del | GRCh37 |
| NC_000001.9:g.227635144del | NCBI36 |
| NG_006672.1:g.6324del , LRG_429:g.6324del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.237del | ENSP00000355644.4:p.Asn80ThrfsTer? | |
| ENST00000684723.1:c.102del | ENSP00000508084.1:p.Asn35ThrfsTer? | |
| ENST00000366683.3:c.237del | ENSP00000355644.3:p.Asn80ThrfsTer? | |
| ENST00000366684.7:c.237del MANE Select | ENSP00000355645.3:p.Asn80ThrfsTer? | |
| NM_001100.3:c.237del , LRG_429t1:c.237del | NP_001091.1:p.Asn80ThrfsTer? | |
| NM_001100.4:c.237del MANE Select | NP_001091.1:p.Asn80ThrfsTer? |