Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154902128_154902148del , CM000685.2:g.154902128_154902148del | GRCh38 |
| NC_000023.10:g.154130403_154130423del , CM000685.1:g.154130403_154130423del | GRCh37 |
| NC_000023.9:g.153783597_153783617del | NCBI36 |
| NG_011403.1:g.125579_125599del | |
| NG_011403.2:g.125579_125599del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.6021_6041del MANE Select | NP_000123.1:p.Met2007_Gly2013del |
| ENST00000360256.9:c.6021_6041del MANE Select | ENSP00000353393.4:p.Met2007_Gly2013del |
| NM_000132.3:c.6021_6041del | NP_000123.1:p.Met2007_Gly2013del |
| ENST00000360256.8:c.6021_6041del | ENSP00000353393.4:p.Met2007_Gly2013del |
| XM_011531126.1:c.5916_5936del | XP_011529428.1:p.Met1972_Gly1978del |