Linked Data
dbSNP Id:
rs1162116251
gnomAD v2:
21-35743022-AC-A
gnomAD v3:
21-34370723-AC-A
gnomAD v4:
21-34370723-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370727del , CM000683.2:g.34370727del | GRCh38 |
| NC_000021.8:g.35743026del , CM000683.1:g.35743026del | GRCh37 |
| NC_000021.7:g.34664896del | NCBI36 |
| NG_008804.1:g.11704del , LRG_291:g.11704del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.249del MANE Select | ENSP00000290310.2:p.Tyr84ThrfsTer6 | |
| ENST00000290310.3:c.249del | ENSP00000290310.2:p.Tyr84ThrfsTer6 | |
| NM_172201.1:c.249del , LRG_291t1:c.249del | NP_751951.1:p.Tyr84ThrfsTer6 | |
| XR_937683.1:n.597del | ||
| XR_937684.1:n.597del | ||
| XR_001755012.2:n.718del | ||
| XR_001755013.2:n.597del | ||
| XR_937683.2:n.597del | ||
| NM_172201.2:c.249del MANE Select | NP_751951.1:p.Tyr84ThrfsTer6 |