Linked Data
ClinVar Variation Id:
836528
ClinVar RCV Id:
RCV001037680
dbSNP Id:
rs1413324756
gnomAD v2:
6-49426857-CG-C
gnomAD v3:
6-49459144-CG-C
gnomAD v4:
6-49459144-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459146del , CM000668.2:g.49459146del | GRCh38 |
| NC_000006.11:g.49426859del , CM000668.1:g.49426859del | GRCh37 |
| NC_000006.10:g.49534818del | NCBI36 |
| NG_007100.1:g.8995del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.322del MANE Select | ENSP00000274813.3:p.Arg108AlafsTer? | |
| ENST00000274813.3:c.322del | ENSP00000274813.3:p.Arg108AlafsTer? | |
| NM_000255.3:c.322del | NP_000246.2:p.Arg108AlafsTer? | |
| XM_005249143.2:c.322del | XP_005249200.1:p.Arg108AlafsTer? | |
| XM_005249143.3:c.322del | XP_005249200.1:p.Arg108AlafsTer? | |
| NM_000255.4:c.322del MANE Select | NP_000246.2:p.Arg108AlafsTer? |