Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152306770_152306773del , CM000663.2:g.152306770_152306773del | GRCh38 |
| NC_000001.10:g.152279246_152279249del , CM000663.1:g.152279246_152279249del | GRCh37 |
| NC_000001.9:g.150545870_150545873del | NCBI36 |
| NG_016190.1:g.23435_23438del , LRG_1028:g.23435_23438del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.8117_8120del MANE Select | ENSP00000357789.1:p.Ser2706CysfsTer? | |
| ENST00000368799.1:c.8117_8120del | ENSP00000357789.1:p.Ser2706CysfsTer? | |
| NM_002016.1:c.8117_8120del , LRG_1028t1:c.8117_8120del | NP_002007.1:p.Ser2706CysfsTer? | |
| XM_011509329.1:c.8117_8120del | XP_011507631.1:p.Ser2706CysfsTer? | |
| NM_002016.2:c.8117_8120del MANE Select | NP_002007.1:p.Ser2706CysfsTer? |