Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459719_48459720del , CM000675.2:g.48459719_48459720del | GRCh38 |
| NC_000013.10:g.49033855_49033856del , CM000675.1:g.49033855_49033856del | GRCh37 |
| NC_000013.9:g.47931856_47931857del | NCBI36 |
| NG_009009.1:g.160973_160974del , LRG_517:g.160973_160974del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1992_1993del MANE Select | ENSP00000267163.4:p.Cys666Ter | |
| ENST00000643064.1:c.194+78276_194+78277del | ||
| ENST00000650461.1:c.1992_1993del | ENSP00000497193.1:p.Cys666Ter | |
| ENST00000267163.4:c.1992_1993del | ENSP00000267163.4:p.Cys666Ter | |
| NM_000321.2:c.1992_1993del , LRG_517t1:c.1992_1993del | NP_000312.2:p.Cys666Ter | |
| XM_011535171.1:c.1731_1732del | XP_011533473.1:p.Cys579Ter | |
| XM_011535171.2:c.1731_1732del | XP_011533473.1:p.Cys579Ter | |
| NM_000321.3:c.1992_1993del MANE Select | NP_000312.2:p.Cys666Ter |