Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240871372_240871379del , CM000664.2:g.240871372_240871379del | GRCh38 |
| NC_000002.11:g.241810789_241810796del , CM000664.1:g.241810789_241810796del | GRCh37 |
| NC_000002.10:g.241459462_241459469del | NCBI36 |
| NG_008005.1:g.7628_7635del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.447_454del MANE Select | ENSP00000302620.3:p.Leu151AsnfsTer14 | |
| ENST00000307503.3:c.447_454del | ENSP00000302620.3:p.Leu151AsnfsTer14 | |
| ENST00000472436.1:n.467_474del | ||
| ENST00000476698.1:n.184_191del | ||
| NM_000030.2:c.447_454del | NP_000021.1:p.Leu151AsnfsTer14 | |
| NM_000030.3:c.447_454del MANE Select | NP_000021.1:p.Leu151AsnfsTer14 |