Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523788_232523789dup , CM000664.2:g.232523788_232523789dup | GRCh38 |
| NC_000002.11:g.233388498_233388499dup , CM000664.1:g.233388498_233388499dup | GRCh37 |
| NC_000002.10:g.233096742_233096743dup | NCBI36 |
| NG_008028.1:g.2577_2578dup | |
| NG_031969.1:g.8326_8327dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1029_1030dup MANE Select | ENSP00000479745.1:p.Pro344ArgfsTer? | |
| ENST00000449534.6:c.1032_1033dup | ENSP00000473410.1:p.Pro345ArgfsTer? | |
| ENST00000617714.1:c.1029_1030dup | ENSP00000479745.1:p.Pro344ArgfsTer? | |
| NM_001195129.1:c.1029_1030dup | NP_001182058.1:p.Pro344ArgfsTer? | |
| NM_001195129.2:c.1029_1030dup MANE Select | NP_001182058.1:p.Pro344ArgfsTer? | |
| NM_001369848.1:c.1032_1033dup | NP_001356777.1:p.Pro345ArgfsTer? |