Linked Data
ClinVar Variation Id:
39079
dbSNP Id:
rs281864955
ExAC:
12:102179919 TG / T
gnomAD v2:
12-102179919-TG-T
gnomAD v3:
12-101786141-TG-T
gnomAD v4:
12-101786141-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786143del , CM000674.2:g.101786143del | GRCh38 |
| NC_000012.11:g.102179921del , CM000674.1:g.102179921del | GRCh37 |
| NC_000012.10:g.100704052del | NCBI36 |
| NG_021243.1:g.49726del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.441del MANE Select | ENSP00000299314.7:p.Asn148ThrfsTer4 | |
| ENST00000299314.11:c.441del | ENSP00000299314.7:p.Asn148ThrfsTer4 | |
| ENST00000549940.5:c.441del | ENSP00000449150.1:p.Asn148ThrfsTer4 | |
| ENST00000550352.1:n.235del | ||
| ENST00000552681.1:c.75del | ENSP00000449217.1:p.Asn26ThrfsTer4 | |
| NM_024312.4:c.441del | NP_077288.2:p.Asn148ThrfsTer4 | |
| XM_006719593.2:c.441del | XP_006719656.1:p.Asn148ThrfsTer4 | |
| XM_011538731.1:c.360del | XP_011537033.1:p.Asn121ThrfsTer4 | |
| XM_006719593.3:c.441del | XP_006719656.1:p.Asn148ThrfsTer4 | |
| XM_011538731.2:c.360del | XP_011537033.1:p.Asn121ThrfsTer4 | |
| XM_017019961.1:c.225del | XP_016875450.1:p.Asn76ThrfsTer4 | |
| XM_017019962.2:c.-910del | XP_016875451.1:n.-910del | |
| NM_024312.5:c.441del MANE Select | NP_077288.2:p.Asn148ThrfsTer4 |