Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233270_55233271insGGGCA , CM000667.2:g.55233270_55233271insGGGCA | GRCh38 |
| NC_000005.9:g.54529098_54529099insGGGCA , CM000667.1:g.54529098_54529099insGGGCA | GRCh37 |
| NC_000005.8:g.54564855_54564856insGGGCA | NCBI36 |
| NG_034201.1:g.5447_5448insTGCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.253_254insTGCCC MANE Select | ENSP00000282572.4:p.Gly85ValfsTer11 | |
| ENST00000282572.4:c.253_254insTGCCC | ENSP00000282572.4:p.Gly85ValfsTer11 | |
| ENST00000501463.2:c.253_254insTGCCC | ENSP00000422485.1:p.Gly85ValfsTer11 | |
| NM_021147.4:c.253_254insTGCCC | NP_066970.3:p.Gly85ValfsTer11 | |
| NR_125346.1:n.447_448insTGCCC | ||
| NR_125347.1:n.447_448insTGCCC | ||
| NM_021147.5:c.253_254insTGCCC MANE Select | NP_066970.3:p.Gly85ValfsTer11 | |
| NR_125346.2:n.338_339insTGCCC | ||
| NR_125347.2:n.338_339insTGCCC |