Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404760_42404761insT , CM000679.2:g.42404760_42404761insT | GRCh38 |
| NC_000017.10:g.40556778_40556779insT , CM000679.1:g.40556778_40556779insT | GRCh37 |
| NC_000017.9:g.37810304_37810305insT | NCBI36 |
| NG_015845.1:g.23560_23561insA | |
| NG_015845.2:g.23560_23561insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1099_1100insA MANE Select | ENSP00000349541.4:p.Pro367HisfsTer? | |
| ENST00000357037.5:c.1099_1100insA | ENSP00000349541.4:p.Pro367HisfsTer? | |
| NM_012232.5:c.1099_1100insA | NP_036364.2:p.Pro367HisfsTer? | |
| NM_012232.6:c.1099_1100insA MANE Select | NP_036364.2:p.Pro367HisfsTer? |