Linked Data
ClinVar Variation Id:
12906
dbSNP Id:
rs267607067
ExAC:
16:31497521 CA / C
gnomAD v2:
16-31497521-CA-C
gnomAD v3:
16-31486200-CA-C
gnomAD v4:
16-31486200-CA-C
PubMed:
PMID:14614622
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31486201del , CM000678.2:g.31486201del | GRCh38 |
| NC_000016.9:g.31497522del , CM000678.1:g.31497522del | GRCh37 |
| NC_000016.8:g.31405023del | NCBI36 |
| NG_012892.1:g.8084del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330498.4:c.500del MANE Select | ENSP00000327943.3:p.Gln167ArgfsTer20 | |
| ENST00000330498.3:c.500del | ENSP00000327943.3:p.Gln167ArgfsTer20 | |
| ENST00000419665.6:c.500del | ENSP00000410601.2:p.Gln167ArgfsTer20 | |
| ENST00000565446.1:n.374del | ||
| ENST00000569576.5:c.371del | ENSP00000455143.1:p.Gln124ArgfsTer20 | |
| NM_003041.3:c.500del | NP_003032.1:p.Gln167ArgfsTer20 | |
| NR_130783.1:n.519del | ||
| XM_006721072.2:c.521del | XP_006721135.2:p.Gln174ArgfsTer20 | |
| XM_006721073.2:c.521del | XP_006721136.2:p.Gln174ArgfsTer20 | |
| XM_006721072.4:c.521del | XP_006721135.2:p.Gln174ArgfsTer20 | |
| XM_024450402.1:c.521del | XP_024306170.1:p.Gln174ArgfsTer20 | |
| NM_003041.4:c.500del MANE Select | NP_003032.1:p.Gln167ArgfsTer20 | |
| NR_130783.2:n.514del |