Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27085257_27085258del , CM000664.2:g.27085257_27085258del | GRCh38 |
| NC_000002.11:g.27308125_27308126del , CM000664.1:g.27308125_27308126del | GRCh37 |
| NC_000002.10:g.27161629_27161630del | NCBI36 |
| NG_012199.1:g.3515_3516del | |
| NG_046849.1:g.11691_11692del | |
| NG_012199.2:g.3515_3516del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380320.9:c.2673_2674del MANE Select | ENSP00000369677.4:p.Arg891SerfsTer5 | |
| ENST00000380320.8:c.2673_2674del | ENSP00000369677.4:p.Arg891SerfsTer5 | |
| ENST00000433140.1:c.665_666del | ||
| NM_007046.3:c.2673_2674del | NP_008977.1:p.Arg891SerfsTer5 | |
| XM_006711928.2:c.2575+249_2575+250del | XP_006711991.1:n.2575+249_2575+250del | |
| NM_007046.4:c.2673_2674del MANE Select | NP_008977.1:p.Arg891SerfsTer5 |