Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567418_137567431del , CM000685.2:g.137567418_137567431del | GRCh38 |
| NC_000023.10:g.136649577_136649590del , CM000685.1:g.136649577_136649590del | GRCh37 |
| NC_000023.9:g.136477243_136477256del | NCBI36 |
| NG_008115.1:g.6232_6245del | |
| NG_008115.2:g.6292_6305del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003413.4:c.727_740del MANE Select | NP_003404.1:p.Met243GlnfsTer30 |
| ENST00000287538.10:c.727_740del MANE Select | ENSP00000287538.5:p.Met243GlnfsTer30 |
| NM_001330661.1:c.727_740del | NP_001317590.1:p.Met243GlnfsTer30 |
| NM_003413.3:c.727_740del | NP_003404.1:p.Met243GlnfsTer30 |
| ENST00000287538.9:c.727_740del | ENSP00000287538.5:p.Met243GlnfsTer30 |
| ENST00000370606.3:c.727_740del | ENSP00000359638.3:p.Met243GlnfsTer30 |