Linked Data
ClinVar Variation Id:
371065
ClinVar RCV Id:
RCV000410594
dbSNP Id:
rs753776604
ExAC:
11:68548179 TG / T
gnomAD v2:
11-68548179-TG-T
gnomAD v3:
11-68780711-TG-T
gnomAD v4:
11-68780711-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68780712del , CM000673.2:g.68780712del | GRCh38 |
| NC_000011.9:g.68548180del , CM000673.1:g.68548180del | GRCh37 |
| NC_000011.8:g.68304756del | NCBI36 |
| NG_011801.1:g.66220del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265641.10:c.1386del MANE Select | ENSP00000265641.4:p.Phe462LeufsTer? | |
| ENST00000265641.9:c.1386del | ENSP00000265641.4:p.Phe462LeufsTer? | |
| ENST00000376618.6:c.1386del | ENSP00000365803.2:p.Phe462LeufsTer? | |
| ENST00000539743.5:c.1386del | ENSP00000446108.1:p.Phe462LeufsTer? | |
| ENST00000540367.5:c.1386del | ENSP00000439084.1:p.Phe462LeufsTer? | |
| NM_001031847.2:c.1386del | NP_001027017.1:p.Phe462LeufsTer? | |
| NM_001876.3:c.1386del | NP_001867.2:p.Phe462LeufsTer? | |
| XM_005273762.1:c.1482del | XP_005273819.1:p.Phe494LeufsTer? | |
| XM_005273763.1:c.1482del | XP_005273820.1:p.Phe494LeufsTer? | |
| XM_005273762.3:c.1482del | XP_005273819.1:p.Phe494LeufsTer? | |
| XM_017017220.1:c.1386del | XP_016872709.1:p.Phe462LeufsTer? | |
| NM_001876.4:c.1386del MANE Select | NP_001867.2:p.Phe462LeufsTer? | |
| NM_001031847.3:c.1386del | NP_001027017.1:p.Phe462LeufsTer? |