Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966705_48966706dup , CM000681.2:g.48966705_48966706dup | GRCh38 |
| NC_000019.9:g.49469962_49469963dup , CM000681.1:g.49469962_49469963dup | GRCh37 |
| NC_000019.8:g.54161774_54161775dup | NCBI36 |
| NG_008152.1:g.6397_6398dup | |
| NG_012923.1:g.31651_31652dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.498_499dup MANE Select | NP_000137.2:p.Phe167SerfsTer26 |
| ENST00000331825.11:c.498_499dup MANE Select | ENSP00000366525.2:p.Phe167SerfsTer26 |
| NM_000146.3:c.498_499dup | NP_000137.2:p.Phe167SerfsTer26 |
| ENST00000331825.10:c.498_499dup | ENSP00000366525.2:p.Phe167SerfsTer26 |
| ENST00000622577.2:c.497_498dup | |
| XM_024451447.1:c.1008_1009dup | XP_024307215.1:p.Phe337SerfsTer26 |