ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3781290del , CM000678.2:g.3781290del | GRCh38 |
| NC_000016.9:g.3831291del , CM000678.1:g.3831291del | GRCh37 |
| NC_000016.8:g.3771292del | NCBI36 |
| NG_009873.1:g.103831del | |
| NG_009873.2:g.104424del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.1590del MANE Select | ENSP00000262367.5:p.Asn530LysfsTer7 | |
| ENST00000262367.9:c.1590del | ENSP00000262367.5:p.Asn530LysfsTer7 | |
| ENST00000382070.7:c.1476del | ENSP00000371502.3:p.Asn492LysfsTer7 | |
| ENST00000570939.2:c.195del | ENSP00000461002.2:p.Asn65LysfsTer7 | |
| NM_001079846.1:c.1476del | NP_001073315.1:p.Asn492LysfsTer7 | |
| NM_004380.2:c.1590del | NP_004371.2:p.Asn530LysfsTer7 | |
| XM_005255124.3:c.1590del | XP_005255181.1:p.Asn530LysfsTer7 | |
| XM_005255125.3:c.1590del | XP_005255182.1:p.Asn530LysfsTer7 | |
| XM_006720848.2:c.1590del | XP_006720911.1:p.Asn530LysfsTer7 | |
| XM_011522380.1:c.1536del | XP_011520682.1:p.Asn512LysfsTer7 | |
| XM_011522381.1:c.837del | XP_011520683.1:p.Asn279LysfsTer7 | |
| XM_011522382.1:c.1590del | XP_011520684.1:p.Asn530LysfsTer7 | |
| XM_005255124.4:c.1590del | XP_005255181.1:p.Asn530LysfsTer7 | |
| XM_005255125.4:c.1590del | XP_005255182.1:p.Asn530LysfsTer7 | |
| XM_006720848.3:c.1590del | XP_006720911.1:p.Asn530LysfsTer7 | |
| XM_011522381.2:c.837del | XP_011520683.1:p.Asn279LysfsTer7 | |
| XM_011522382.3:c.1590del | XP_011520684.1:p.Asn530LysfsTer7 | |
| XM_017022944.1:c.1590del | XP_016878433.1:p.Asn530LysfsTer7 | |
| NM_004380.3:c.1590del MANE Select | NP_004371.2:p.Asn530LysfsTer7 |