Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899293_4899305del , CM000679.2:g.4899293_4899305del | GRCh38 |
| NC_000017.10:g.4802588_4802600del , CM000679.1:g.4802588_4802600del | GRCh37 |
| NC_000017.9:g.4743367_4743379del | NCBI36 |
| NG_008029.2:g.8775_8787del | |
| NG_028005.1:g.70954_70966del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000080.4:c.1116_1128del MANE Select | NP_000071.1:p.Ser373TyrfsTer8 |
| ENST00000649488.2:c.1116_1128del MANE Select | ENSP00000497829.1:p.Ser373TyrfsTer8 |
| NM_000080.3:c.1116_1128del | NP_000071.1:p.Ser373TyrfsTer8 |
| ENST00000293780.4:c.1116_1128del | ENSP00000293780.4:p.Ser373TyrfsTer8 |
| ENST00000572438.1:n.802_814del | |
| ENST00000649830.1:c.183_195del | ENSP00000496907.1:p.Ser62TyrfsTer8 |
| ENST00000652550.1:n.846_858del | |
| XM_017024115.1:c.1080_1092del | XP_016879604.1:p.Ser361TyrfsTer8 |