Linked Data
gnomAD v4:
15-73322863-C-CCGGGGGTGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322872_73322881dup , CM000677.2:g.73322872_73322881dup | GRCh38 |
| NC_000015.9:g.73615213_73615222dup , CM000677.1:g.73615213_73615222dup | GRCh37 |
| NC_000015.8:g.71402266_71402275dup | NCBI36 |
| NG_009063.1:g.51392_51401dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3220_3229dup MANE Select | ENSP00000261917.3:p.Gly1077AlafsTer? | |
| ENST00000261917.3:c.3220_3229dup | ENSP00000261917.3:p.Gly1077AlafsTer? | |
| NM_005477.2:c.3220_3229dup | NP_005468.1:p.Gly1077AlafsTer? | |
| XM_011521148.1:c.2002_2011dup | XP_011519450.1:p.Gly671AlafsTer? | |
| XM_011521148.2:c.2002_2011dup | XP_011519450.1:p.Gly671AlafsTer? | |
| NM_005477.3:c.3220_3229dup MANE Select | NP_005468.1:p.Gly1077AlafsTer? |