Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29073317_29073325dup , CM000664.2:g.29073317_29073325dup | GRCh38 |
| NC_000002.11:g.29296183_29296191dup , CM000664.1:g.29296183_29296191dup | GRCh37 |
| NC_000002.10:g.29149687_29149695dup | NCBI36 |
| NG_021427.1:g.5938_5946dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001029883.3:c.938_946dup MANE Select | NP_001025054.1:p.Arg315_Asn316insThrLysArg |
| ENST00000331664.6:c.938_946dup MANE Select | ENSP00000332809.4:p.Arg315_Asn316insThrLysArg |
| NM_001029883.2:c.938_946dup | NP_001025054.1:p.Arg315_Asn316insThrLysArg |
| ENST00000331664.5:c.938_946dup | ENSP00000332809.4:p.Arg315_Asn316insThrLysArg |
| XM_011532826.1:c.938_946dup | XP_011531128.1:p.Arg315_Asn316insThrLysArg |
| XR_939901.1:n.185+4150_185+4158dup | |
| XR_939902.1:n.173+4162_173+4170dup |