Linked Data
ClinVar Variation Id:
650891
ClinVar RCV Id:
RCV000806134
dbSNP Id:
rs1462202735
gnomAD v2:
14-29236632-CCACCACCACCACCAT-C
gnomAD v3:
14-28767426-CCACCACCACCACCAT-C
gnomAD v4:
14-28767426-CCACCACCACCACCAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767437_28767451del , CM000676.2:g.28767437_28767451del | GRCh38 |
| NC_000014.8:g.29236643_29236657del , CM000676.1:g.29236643_29236657del | GRCh37 |
| NC_000014.7:g.28306394_28306408del | NCBI36 |
| NG_009367.1:g.5357_5371del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.158_172del | ENSP00000516406.1:p.His53_His57del | |
| ENST00000313071.7:c.158_172del MANE Select | ENSP00000339004.3:p.His53_His57del | |
| ENST00000313071.6:c.158_172del | ENSP00000339004.3:p.His53_His57del | |
| NM_005249.4:c.158_172del | NP_005240.3:p.His53_His57del | |
| NM_005249.5:c.158_172del MANE Select | NP_005240.3:p.His53_His57del |