Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215888524_215888525dup , CM000663.2:g.215888524_215888525dup | GRCh38 |
| NC_000001.10:g.216061866_216061867dup , CM000663.1:g.216061866_216061867dup | GRCh37 |
| NC_000001.9:g.214128489_214128490dup | NCBI36 |
| NG_009497.1:g.539874_539875dup | |
| NG_009497.2:g.539926_539927dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.8126_8127dup MANE Select | NP_996816.3:p.Asn2710GlnfsTer7 |
| ENST00000307340.8:c.8126_8127dup MANE Select | ENSP00000305941.3:p.Asn2710GlnfsTer7 |
| NM_206933.2:c.8126_8127dup | NP_996816.2:p.Asn2710GlnfsTer7 |
| NM_206933.3:c.8126_8127dup | NP_996816.2:p.Asn2710GlnfsTer7 |
| ENST00000307340.7:c.8126_8127dup | ENSP00000305941.3:p.Asn2710GlnfsTer7 |
| ENST00000674083.1:c.8126_8127dup | ENSP00000501296.1:p.Asn2710GlnfsTer7 |