Linked Data
ClinVar Variation Id:
550433
ClinVar RCV Id:
RCV000665175
dbSNP Id:
rs750857876
ExAC:
11:64527172 GC / G
gnomAD v2:
11-64527172-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759704del , CM000673.2:g.64759704del | GRCh38 |
| NC_000011.9:g.64527176del , CM000673.1:g.64527176del | GRCh37 |
| NC_000011.8:g.64283752del | NCBI36 |
| NG_013018.1:g.6015del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.198del MANE Select | ENSP00000164139.3:p.Arg67AlafsTer22 | |
| ENST00000164139.3:c.198del | ENSP00000164139.3:p.Arg67AlafsTer22 | |
| ENST00000377432.7:c.198del | ENSP00000366650.3:p.Arg67AlafsTer? | |
| NM_001164716.1:c.198del | NP_001158188.1:p.Arg67AlafsTer? | |
| NM_005609.2:c.198del | NP_005600.1:p.Arg67AlafsTer22 | |
| NM_005609.3:c.198del | NP_005600.1:p.Arg67AlafsTer22 | |
| NM_005609.4:c.198del MANE Select | NP_005600.1:p.Arg67AlafsTer22 |