Linked Data
ClinVar Variation Id:
52866
ClinVar RCV Id:
RCV000077473
dbSNP Id:
rs397508062
PubMed:
PMID:20104584
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32396937_32396950del , CM000675.2:g.32396937_32396950del | GRCh38 |
| NC_000013.10:g.32971074_32971087del , CM000675.1:g.32971074_32971087del | GRCh37 |
| NC_000013.9:g.31869074_31869087del | NCBI36 |
| NG_012772.3:g.86458_86471del , LRG_293:g.86458_86471del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.*64_*77del | ENSP00000434898.2:n.*64_*77del | |
| ENST00000528762.2:c.*908_*921del | ENSP00000433168.2:n.*908_*921del | |
| ENST00000530893.7:c.9172_9185del | ENSP00000499438.2:p.Met3058CysfsTer3 | |
| ENST00000665585.2:c.*1103_*1116del | ENSP00000499570.2:n.*1103_*1116del | |
| ENST00000700202.2:c.9490_9503del | ENSP00000514856.2:p.Met3164CysfsTer3 | |
| ENST00000700202.1:c.1957_1970del | ENSP00000514856.1:p.Met653CysfsTer3 | |
| ENST00000700203.1:n.1668_1681del | ||
| ENST00000380152.8:c.9541_9554del MANE Select | ENSP00000369497.3:p.Met3181CysfsTer3 | |
| ENST00000544455.6:c.9541_9554del | ENSP00000439902.1:p.Met3181CysfsTer3 | |
| ENST00000614259.2:c.9549_9562del | ENSP00000506251.1:n.9549_9562del | |
| ENST00000665585.1:c.2419_2432del | ||
| ENST00000680887.1:c.9541_9554del | ENSP00000505508.1:p.Met3181CysfsTer3 | |
| ENST00000380152.7:c.9541_9554del | ENSP00000369497.3:p.Met3181CysfsTer3 | |
| ENST00000470094.1:c.624_637del | ||
| ENST00000533776.1:n.129_142del | ||
| ENST00000544455.5:c.9541_9554del | ENSP00000439902.1:p.Met3181CysfsTer3 | |
| NM_000059.3:c.9541_9554del , LRG_293t1:c.9541_9554del | NP_000050.2:p.Met3181CysfsTer3 | |
| XM_011535203.1:c.9541_9554del | XP_011533505.1:p.Met3181CysfsTer3 | |
| XM_011535204.1:c.9445_9458del | XP_011533506.1:p.Met3149CysfsTer3 | |
| NM_000059.4:c.9541_9554del MANE Select | NP_000050.3:p.Met3181CysfsTer3 |