Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848095_35848096insAA , CM000681.2:g.35848095_35848096insAA | GRCh38 |
| NC_000019.9:g.36338997_36338998insAA , CM000681.1:g.36338997_36338998insAA | GRCh37 |
| NC_000019.8:g.41030837_41030838insAA | NCBI36 |
| NG_013356.2:g.26192_26193insTT , LRG_693:g.26192_26193insTT | |
| NG_051206.1:g.1461_1462insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1385_1386insTT MANE Select | ENSP00000368190.4:p.Arg462SerfsTer25 | |
| ENST00000353632.6:c.1385_1386insTT | ENSP00000343634.5:p.Arg462SerfsTer25 | |
| ENST00000378910.9:c.1385_1386insTT | ENSP00000368190.4:p.Arg462SerfsTer25 | |
| ENST00000592132.1:n.392_393insTT | ||
| NM_004646.3:c.1385_1386insTT , LRG_693t1:c.1385_1386insTT | NP_004637.1:p.Arg462SerfsTer25 | |
| NM_004646.4:c.1385_1386insTT MANE Select | NP_004637.1:p.Arg462SerfsTer25 |