Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837643del , CM000685.2:g.154837643del | GRCh38 |
| NC_000023.10:g.154065918del , CM000685.1:g.154065918del | GRCh37 |
| NC_000023.9:g.153719112del | NCBI36 |
| NG_011403.1:g.190083del | |
| NG_033065.1:g.2022del | |
| NG_011403.2:g.190083del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.7012del MANE Select | ENSP00000353393.4:p.Leu2338Ter | |
| ENST00000644698.1:c.745del | ENSP00000495706.1:p.Leu249Ter | |
| ENST00000330287.10:c.607del | ENSP00000327895.6:p.Leu203Ter | |
| ENST00000360256.8:c.7012del | ENSP00000353393.4:p.Leu2338Ter | |
| NM_000132.3:c.7012del | NP_000123.1:p.Leu2338Ter | |
| NM_019863.2:c.607del | NP_063916.1:p.Leu203Ter | |
| XM_011531126.1:c.6907del | XP_011529428.1:p.Leu2303Ter | |
| NM_000132.4:c.7012del MANE Select | NP_000123.1:p.Leu2338Ter | |
| NM_019863.3:c.607del | NP_063916.1:p.Leu203Ter |