Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152305048_152305049del , CM000663.2:g.152305048_152305049del | GRCh38 |
| NC_000001.10:g.152277524_152277525del , CM000663.1:g.152277524_152277525del | GRCh37 |
| NC_000001.9:g.150544148_150544149del | NCBI36 |
| NG_016190.1:g.25158_25159del , LRG_1028:g.25158_25159del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.9840_9841del MANE Select | ENSP00000357789.1:p.Glu3280AspfsTer12 | |
| ENST00000368799.1:c.9840_9841del | ENSP00000357789.1:p.Glu3280AspfsTer12 | |
| NM_002016.1:c.9840_9841del , LRG_1028t1:c.9840_9841del | NP_002007.1:p.Glu3280AspfsTer12 | |
| XM_011509329.1:c.9108+732_9108+733del | XP_011507631.1:n.9108+732_9108+733del | |
| NM_002016.2:c.9840_9841del MANE Select | NP_002007.1:p.Glu3280AspfsTer12 |