Linked Data
ClinVar Variation Id:
311920
ClinVar RCV Id:
RCV000406903
dbSNP Id:
rs770040180
gnomAD v2:
13-37494324-AGCGGCG-A
gnomAD v3:
13-36920187-AGCGGCG-A
gnomAD v4:
13-36920187-AGCGGCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.36920211_36920216del , CM000675.2:g.36920211_36920216del | GRCh38 |
| NC_000013.10:g.37494348_37494353del , CM000675.1:g.37494348_37494353del | GRCh37 |
| NC_000013.9:g.36392348_36392353del | NCBI36 |
| NG_016963.1:g.5080_5085del , LRG_703:g.5080_5085del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483941.2:n.253+442_253+447del | ||
| ENST00000350148.10:c.-264_-259del | ENSP00000239885.6:n.-264_-259del | |
| ENST00000379826.5:c.-264_-259del MANE Select | ENSP00000369154.4:n.-264_-259del | |
| ENST00000350148.9:c.-264_-259del | ENSP00000239885.6:n.-264_-259del | |
| ENST00000379826.4:c.-264_-259del | ENSP00000369154.4:n.-264_-259del | |
| ENST00000483941.1:n.131+442_131+447del | ||
| NM_001127217.2:c.-264_-259del , LRG_703t1:c.-264_-259del | NP_001120689.1:n.-264_-259del | |
| NM_005905.5:c.-264_-259del | NP_005896.1:n.-264_-259del | |
| XM_005266403.2:c.-264_-259del | XP_005266460.1:n.-264_-259del | |
| XM_005266404.2:c.-264_-259del | XP_005266461.1:n.-264_-259del | |
| XM_006719827.2:c.-187+442_-187+447del | XP_006719890.1:n.-187+442_-187+447del | |
| XM_005266403.3:c.-264_-259del | XP_005266460.1:n.-264_-259del | |
| XM_005266404.3:c.-264_-259del | XP_005266461.1:n.-264_-259del | |
| XM_006719827.3:c.-187+442_-187+447del | XP_006719890.1:n.-187+442_-187+447del | |
| NM_001127217.3:c.-264_-259del MANE Select | NP_001120689.1:n.-264_-259del | |
| NM_005905.6:c.-264_-259del | NP_005896.1:n.-264_-259del |