Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154956969_154956970del , CM000685.2:g.154956969_154956970del | GRCh38 |
| NC_000023.10:g.154185244_154185245del , CM000685.1:g.154185244_154185245del | GRCh37 |
| NC_000023.9:g.153838438_153838439del | NCBI36 |
| NG_011403.1:g.70755_70756del | |
| NG_011403.2:g.70755_70756del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1740_1741del MANE Select | ENSP00000353393.4:p.Gly582LysfsTer17 | |
| ENST00000647125.1:c.*1616_*1617del | ENSP00000496062.1:n.*1616_*1617del | |
| ENST00000360256.8:c.1740_1741del | ENSP00000353393.4:p.Gly582LysfsTer17 | |
| NM_000132.3:c.1740_1741del | NP_000123.1:p.Gly582LysfsTer17 | |
| XM_011531126.1:c.1635_1636del | XP_011529428.1:p.Gly547LysfsTer17 | |
| NM_000132.4:c.1740_1741del MANE Select | NP_000123.1:p.Gly582LysfsTer17 |