Linked Data
dbSNP Id:
rs776963102
ExAC:
13:24436459 TTTCA / T
gnomAD v2:
13-24436459-TTTCA-T
gnomAD v4:
13-23862320-TTTCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23862323_23862326del , CM000675.2:g.23862323_23862326del | GRCh38 |
| NC_000013.10:g.24436462_24436465del , CM000675.1:g.24436462_24436465del | GRCh37 |
| NC_000013.9:g.23334462_23334465del | NCBI36 |
| NG_052977.1:g.32125_32128del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382172.4:c.1031_1034del MANE Select | ENSP00000371607.3:p.Met344AsnfsTer2 | |
| ENST00000382172.3:c.1031_1034del | ENSP00000371607.3:p.Met344AsnfsTer2 | |
| ENST00000494139.1:n.428_431del | ||
| NM_005932.3:c.1031_1034del | NP_005923.2:p.Met344AsnfsTer2 | |
| XM_011535097.1:c.845_848del | XP_011533399.1:p.Met282AsnfsTer2 | |
| XM_011535098.1:c.1031_1034del | XP_011533400.1:p.Met344AsnfsTer2 | |
| XM_011535097.2:c.845_848del | XP_011533399.1:p.Met282AsnfsTer2 | |
| XM_011535098.3:c.1031_1034del | XP_011533400.1:p.Met344AsnfsTer2 | |
| NM_005932.4:c.1031_1034del MANE Select | NP_005923.3:p.Met344AsnfsTer2 |