Linked Data
dbSNP Id:
rs2073024331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904081del , CM000685.2:g.154904081del | GRCh38 |
| NC_000023.10:g.154132356del , CM000685.1:g.154132356del | GRCh37 |
| NC_000023.9:g.153785550del | NCBI36 |
| NG_011403.1:g.123643del | |
| NG_011403.2:g.123643del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5823del MANE Select | ENSP00000353393.4:p.Asn1941LysfsTer4 | |
| ENST00000360256.8:c.5823del | ENSP00000353393.4:p.Asn1941LysfsTer4 | |
| NM_000132.3:c.5823del | NP_000123.1:p.Asn1941LysfsTer4 | |
| XM_011531126.1:c.5718del | XP_011529428.1:p.Asn1906LysfsTer4 | |
| NM_000132.4:c.5823del MANE Select | NP_000123.1:p.Asn1941LysfsTer4 |