gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13124030_13124034del , CM000672.2:g.13124030_13124034del | GRCh38 |
| NC_000010.10:g.13166030_13166034del , CM000672.1:g.13166030_13166034del | GRCh37 |
| NC_000010.9:g.13206036_13206040del | NCBI36 |
| NG_012876.1:g.28949_28953del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.918_922del MANE Select | ENSP00000368021.3:p.Thr307SerfsTer3 | |
| ENST00000263036.9:c.918_922del | ENSP00000263036.3:p.Thr307SerfsTer3 | |
| ENST00000378747.7:c.918_922del | ENSP00000368021.3:p.Thr307SerfsTer3 | |
| ENST00000378748.7:c.918_922del | ENSP00000368022.3:p.Thr307SerfsTer3 | |
| ENST00000378752.7:c.900_904del | ENSP00000368027.3:p.Thr301SerfsTer3 | |
| ENST00000378757.6:c.918_922del | ENSP00000368032.2:p.Thr307SerfsTer3 | |
| ENST00000378764.6:c.900_904del | ENSP00000368040.1:p.Thr301SerfsTer3 | |
| NM_001008211.1:c.918_922del | NP_001008212.1:p.Thr307SerfsTer3 | |
| NM_001008212.1:c.918_922del | NP_001008213.1:p.Thr307SerfsTer3 | |
| NM_001008213.1:c.918_922del | NP_001008214.1:p.Thr307SerfsTer3 | |
| NM_021980.4:c.918_922del | NP_068815.2:p.Thr307SerfsTer3 | |
| XM_005252336.2:c.900_904del | XP_005252393.2:p.Thr301SerfsTer3 | |
| XM_005252337.3:c.900_904del | XP_005252394.2:p.Thr301SerfsTer3 | |
| XM_005252338.2:c.747_751del | XP_005252395.2:p.Thr250SerfsTer3 | |
| NM_001008212.2:c.918_922del MANE Select | NP_001008213.1:p.Thr307SerfsTer3 |