Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957108_154957130del , CM000685.2:g.154957108_154957130del | GRCh38 |
| NC_000023.10:g.154185383_154185405del , CM000685.1:g.154185383_154185405del | GRCh37 |
| NC_000023.9:g.153838577_153838599del | NCBI36 |
| NG_011403.1:g.70594_70616del | |
| NG_011403.2:g.70594_70616del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1579_1601del MANE Select | ENSP00000353393.4:p.Ile527AspfsTer8 | |
| ENST00000647125.1:c.*1455_*1477del | ENSP00000496062.1:n.*1455_*1477del | |
| ENST00000360256.8:c.1579_1601del | ENSP00000353393.4:p.Ile527AspfsTer8 | |
| NM_000132.3:c.1579_1601del | NP_000123.1:p.Ile527AspfsTer8 | |
| XM_011531126.1:c.1474_1496del | XP_011529428.1:p.Ile492AspfsTer8 | |
| NM_000132.4:c.1579_1601del MANE Select | NP_000123.1:p.Ile527AspfsTer8 |