Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966667dup , CM000681.2:g.48966667dup | GRCh38 |
| NC_000019.9:g.49469924dup , CM000681.1:g.49469924dup | GRCh37 |
| NC_000019.8:g.54161736dup | NCBI36 |
| NG_008152.1:g.6359dup | |
| NG_012923.1:g.31687dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.460dup MANE Select | NP_000137.2:p.Arg154LysfsTer27 |
| ENST00000331825.11:c.460dup MANE Select | ENSP00000366525.2:p.Arg154LysfsTer27 |
| NM_000146.3:c.460dup | NP_000137.2:p.Arg154LysfsTer27 |
| ENST00000331825.10:c.460dup | ENSP00000366525.2:p.Arg154LysfsTer27 |
| ENST00000622577.2:c.460dup | ENSP00000484043.1:p.Arg154LysfsTer23 |
| XM_024451447.1:c.970dup | XP_024307215.1:p.Arg324LysfsTer27 |