Linked Data
ClinVar Variation Id:
161541
ClinVar RCV Id:
RCV000149076
dbSNP Id:
rs193920946
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48867594_48867602del , CM000681.2:g.48867594_48867602del | GRCh38 |
| NC_000019.9:g.49370851_49370859del , CM000681.1:g.49370851_49370859del | GRCh37 |
| NC_000019.8:g.54062663_54062671del | NCBI36 |
| NG_054880.1:g.6027_6035del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594100.2:c.20_28del | ENSP00000471274.2:p.Arg7_Ser9del | |
| ENST00000706736.1:n.526_534del | ||
| ENST00000706738.1:c.20_28del | ENSP00000516522.1:p.Arg7_Ser9del | |
| ENST00000706740.1:n.294_302del | ||
| ENST00000263265.11:c.20_28del MANE Select | ENSP00000263265.5:p.Arg7_Ser9del | |
| ENST00000263265.10:c.20_28del | ENSP00000263265.5:p.Arg7_Ser9del | |
| ENST00000355496.9:c.20_28del | ENSP00000347683.4:p.Arg7_Ser9del | |
| NM_001161354.1:c.20_28del | NP_001154826.1:p.Arg7_Ser9del | |
| NM_020904.2:c.20_28del | NP_065955.2:p.Arg7_Ser9del | |
| XM_005259107.2:c.20_28del | XP_005259164.1:p.Arg7_Ser9del | |
| XM_006723301.2:c.20_28del | XP_006723364.1:p.Arg7_Ser9del | |
| XM_011527157.1:c.20_28del | XP_011525459.1:p.Arg7_Ser9del | |
| XM_011527158.1:c.20_28del | XP_011525460.1:p.Arg7_Ser9del | |
| XM_011527159.1:c.-114_-106del | XP_011525461.1:n.-114_-106del | |
| XM_011527160.1:c.20_28del | XP_011525462.1:p.Arg7_Ser9del | |
| XM_011527158.3:c.20_28del | XP_011525460.1:p.Arg7_Ser9del | |
| NM_020904.3:c.20_28del MANE Select | NP_065955.2:p.Arg7_Ser9del | |
| NM_001161354.2:c.20_28del | NP_001154826.1:p.Arg7_Ser9del |