Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48364916dup , CM000675.2:g.48364916dup | GRCh38 |
| NC_000013.10:g.48939052dup , CM000675.1:g.48939052dup | GRCh37 |
| NC_000013.9:g.47837053dup | NCBI36 |
| NG_009009.1:g.66170dup , LRG_517:g.66170dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.884dup MANE Select | ENSP00000267163.4:p.Asn295LysfsTer15 | |
| ENST00000650461.1:c.884dup | ENSP00000497193.1:p.Asn295LysfsTer15 | |
| ENST00000267163.4:c.884dup | ENSP00000267163.4:p.Asn295LysfsTer15 | |
| NM_000321.2:c.884dup , LRG_517t1:c.884dup | NP_000312.2:p.Asn295LysfsTer15 | |
| XM_011535171.1:c.623dup | XP_011533473.1:p.Asn208LysfsTer15 | |
| XM_011535171.2:c.623dup | XP_011533473.1:p.Asn208LysfsTer15 | |
| NM_000321.3:c.884dup MANE Select | NP_000312.2:p.Asn295LysfsTer15 |