Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019612_6019613insA , CM000674.2:g.6019612_6019613insA | GRCh38 |
| NC_000012.11:g.6128778_6128779insA , CM000674.1:g.6128778_6128779insA | GRCh37 |
| NC_000012.10:g.5999039_5999040insA | NCBI36 |
| NG_009072.1:g.110058_110059insT | |
| NG_009072.2:g.110058_110059insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3805_3806insT MANE Select | ENSP00000261405.5:p.Asp1269ValfsTer24 | |
| ENST00000261405.9:c.3805_3806insT | ENSP00000261405.5:p.Asp1269ValfsTer24 | |
| ENST00000538635.5:n.421-25679_421-25678insT | ||
| ENST00000539641.1:n.603_604insT | ||
| NM_000552.3:c.3805_3806insT | NP_000543.2:p.Asp1269ValfsTer24 | |
| NM_000552.4:c.3805_3806insT | NP_000543.2:p.Asp1269ValfsTer24 | |
| NM_000552.5:c.3805_3806insT MANE Select | NP_000543.3:p.Asp1269ValfsTer24 |