Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034179del , CM000672.2:g.104034179del | GRCh38 |
| NC_000010.10:g.105793937del , CM000672.1:g.105793937del | GRCh37 |
| NC_000010.9:g.105783927del | NCBI36 |
| NG_007069.1:g.56702del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.3922del MANE Select | NP_000485.3:p.Ser1308AlafsTer4 |
| ENST00000648076.2:c.3922del MANE Select | ENSP00000497653.1:p.Ser1308AlafsTer4 |
| NM_000494.3:c.3922del | NP_000485.3:p.Ser1308AlafsTer4 |
| ENST00000353479.9:c.3922del | ENSP00000340937.5:p.Ser1308AlafsTer4 |
| ENST00000369733.7:c.3676del | ENSP00000358748.3:p.Ser1226AlafsTer4 |
| ENST00000369733.8:c.3676del | ENSP00000358748.3:p.Ser1226AlafsTer4 |