gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169140522del , CM000664.2:g.169140522del | GRCh38 |
| NC_000002.11:g.169997032del , CM000664.1:g.169997032del | GRCh37 |
| NC_000002.10:g.169705278del | NCBI36 |
| NG_012634.1:g.227098del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.13139del MANE Select | ENSP00000496870.1:p.Pro4380HisfsTer? | |
| ENST00000649153.1:c.4009-905del | ||
| ENST00000650252.1:c.2137-7del | ENSP00000496887.1:n.2137-7del | |
| ENST00000263816.7:c.13139del | ENSP00000263816.3:p.Pro4380HisfsTer? | |
| NM_004525.2:c.13139del | NP_004516.2:p.Pro4380HisfsTer? | |
| XM_011511183.1:c.13010del | XP_011509485.1:p.Pro4337HisfsTer? | |
| XM_011511184.1:c.10850del | XP_011509486.1:p.Pro3617HisfsTer? | |
| NM_004525.3:c.13139del MANE Select | NP_004516.2:p.Pro4380HisfsTer? | |
| XM_011511183.3:c.13010del | XP_011509485.1:p.Pro4337HisfsTer? | |
| XM_011511184.2:c.10850del | XP_011509486.1:p.Pro3617HisfsTer? |