Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216048572_216048573dup , CM000663.2:g.216048572_216048573dup | GRCh38 |
| NC_000001.10:g.216221914_216221915dup , CM000663.1:g.216221914_216221915dup | GRCh37 |
| NC_000001.9:g.214288537_214288538dup | NCBI36 |
| NG_009497.1:g.379827_379828dup | |
| NG_009497.2:g.379879_379880dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.6127_6128dup MANE Select | ENSP00000305941.3:p.Ser2043ArgfsTer6 | |
| ENST00000674083.1:c.6127_6128dup | ENSP00000501296.1:p.Ser2043ArgfsTer6 | |
| ENST00000307340.7:c.6127_6128dup | ENSP00000305941.3:p.Ser2043ArgfsTer6 | |
| NM_206933.2:c.6127_6128dup | NP_996816.2:p.Ser2043ArgfsTer6 | |
| NM_206933.3:c.6127_6128dup | NP_996816.2:p.Ser2043ArgfsTer6 | |
| NM_206933.4:c.6127_6128dup MANE Select | NP_996816.3:p.Ser2043ArgfsTer6 |