Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.81750277dup , CM000668.2:g.81750277dup | GRCh38 |
| NC_000006.11:g.82459994dup , CM000668.1:g.82459994dup | GRCh37 |
| NC_000006.10:g.82516713dup | NCBI36 |
| NG_056210.1:g.7437dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017633.3:c.749dup MANE Select | NP_060103.2:p.Met251AsnfsTer3 |
| ENST00000320172.11:c.749dup MANE Select | ENSP00000318298.6:p.Met251AsnfsTer3 |
| NM_017633.2:c.749dup | NP_060103.2:p.Met251AsnfsTer3 |
| ENST00000320172.10:c.749dup | ENSP00000318298.6:p.Met251AsnfsTer3 |
| ENST00000369754.7:c.806dup | ENSP00000358769.3:p.Met270AsnfsTer3 |
| ENST00000369756.3:c.992dup | ENSP00000358771.3:p.Met332AsnfsTer3 |
| ENST00000412306.1:c.223+1315dup | |
| ENST00000423467.1:c.165-214dup |