Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612554_87612557delinsAACATATGTTCATCATGGGAAAGAAGAAA , CM000666.2:g.87612554_87612557delinsAACATATGTTCATCATGGGAAAGAAGAAA | GRCh38 |
| NC_000004.11:g.88533706_88533709delinsAACATATGTTCATCATGGGAAAGAAGAAA , CM000666.1:g.88533706_88533709delinsAACATATGTTCATCATGGGAAAGAAGAAA | GRCh37 |
| NC_000004.10:g.88752730_88752733delinsAACATATGTTCATCATGGGAAAGAAGAAA | NCBI36 |
| NG_011595.1:g.9026_9029delinsAACATATGTTCATCATGGGAAAGAAGAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA MANE Select | ENSP00000498766.1:p.Gly123GlufsTer30 | |
| ENST00000282478.7:c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA | ENSP00000282478.7:p.Gly123GlufsTer30 | |
| ENST00000399271.5:c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA | ENSP00000382213.1:p.Gly123GlufsTer30 | |
| NM_014208.3:c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA MANE Select | NP_055023.2:p.Gly123GlufsTer30 |