Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400522_18400525del , CM000670.2:g.18400522_18400525del | GRCh38 |
| NC_000008.10:g.18258032_18258035del , CM000670.1:g.18258032_18258035del | GRCh37 |
| NC_000008.9:g.18302312_18302315del | NCBI36 |
| NG_012246.1:g.14278_14281del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.519_522del MANE Select | ENSP00000286479.3:p.Lys173AsnfsTer? | |
| ENST00000286479.3:c.519_522del | ENSP00000286479.3:p.Lys173AsnfsTer? | |
| ENST00000520116.1:c.129_132del | ENSP00000428416.1:p.Lys43AsnfsTer? | |
| NM_000015.2:c.519_522del | NP_000006.2:p.Lys173AsnfsTer? | |
| XM_011544358.1:c.519_522del | XP_011542660.1:p.Lys173AsnfsTer? | |
| XM_017012938.1:c.519_522del | XP_016868427.1:p.Lys173AsnfsTer? | |
| NM_000015.3:c.519_522del MANE Select | NP_000006.2:p.Lys173AsnfsTer? |