Linked Data
ClinVar Variation Id:
6910
ClinVar RCV Id:
RCV002257358
dbSNP Id:
rs587776647
PubMed:
PMID:15032977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094953del , CM000673.2:g.112094953del | GRCh38 |
| NC_000011.9:g.111965677del , CM000673.1:g.111965677del | GRCh37 |
| NC_000011.8:g.111470887del | NCBI36 |
| NG_012337.2:g.13107del | |
| NG_012337.3:g.13107del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530923.6:c.*202del | ENSP00000432946.2:n.*202del | |
| ENST00000534010.2:c.314+5942del | ENSP00000433202.2:n.314+5942del | |
| ENST00000375549.8:c.463del MANE Select | ENSP00000364699.3:p.Met155CysfsTer13 | |
| ENST00000528021.6:c.314+5942del | ENSP00000432465.1:n.314+5942del | |
| ENST00000375549.7:c.463del | ENSP00000364699.3:p.Met155CysfsTer13 | |
| ENST00000525291.5:c.346del | ENSP00000436669.1:p.Met116CysfsTer13 | |
| ENST00000525987.5:n.319+5942del | ||
| ENST00000526592.5:c.*161del | ENSP00000432005.1:n.*161del | |
| ENST00000528021.5:c.314+5942del | ENSP00000432465.1:n.314+5942del | |
| ENST00000528048.5:c.*60del | ENSP00000436217.1:n.*60del | |
| ENST00000528182.5:c.*60del | ENSP00000435475.1:n.*60del | |
| ENST00000530923.5:c.507del | ||
| ENST00000531744.5:c.314+5942del | ENSP00000456957.1:n.314+5942del | |
| ENST00000532699.1:c.314+5942del | ENSP00000456434.1:n.314+5942del | |
| ENST00000534010.1:c.145+5942del | ||
| NM_001276503.1:c.*60del | NP_001263432.1:n.*60del | |
| NM_001276504.1:c.346del | NP_001263433.1:p.Met116CysfsTer13 | |
| NM_001276506.1:c.*161del | NP_001263435.1:n.*161del | |
| NM_003002.3:c.463del | NP_002993.1:p.Met155CysfsTer13 | |
| NR_077060.1:n.601del | ||
| NM_003002.4:c.463del MANE Select | NP_002993.1:p.Met155CysfsTer13 | |
| NM_001276503.2:c.*60del | NP_001263432.1:n.*60del | |
| NM_001276504.2:c.346del | NP_001263433.1:p.Met116CysfsTer13 | |
| NM_001276506.2:c.*161del | NP_001263435.1:n.*161del | |
| NR_077060.2:n.552del |