Linked Data
ClinVar Variation Id:
252195
ClinVar RCV Id:
RCV000237683
dbSNP Id:
rs879255122
PubMed:
PMID:16465405
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120436del , CM000681.2:g.11120436del | GRCh38 |
| NC_000019.9:g.11231112del , CM000681.1:g.11231112del | GRCh37 |
| NC_000019.8:g.11092112del | NCBI36 |
| NG_009060.1:g.36056del , LRG_274:g.36056del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.2312del | ENSP00000252444.6:p.Pro771ArgfsTer24 | |
| ENST00000559340.2:c.*123del | ENSP00000453696.2:n.*123del | |
| ENST00000560467.2:c.1934del | ENSP00000453513.2:p.Pro645ArgfsTer24 | |
| ENST00000558518.6:c.2054del MANE Select | ENSP00000454071.1:p.Pro685ArgfsTer24 | |
| ENST00000252444.9:c.2308del | ||
| ENST00000455727.6:c.1550del | ENSP00000397829.2:p.Pro517ArgfsTer24 | |
| ENST00000535915.5:c.1931del | ENSP00000440520.1:p.Pro644ArgfsTer24 | |
| ENST00000545707.5:c.1606+203del | ENSP00000437639.1:n.1606+203del | |
| ENST00000557933.5:c.2054del | ENSP00000453557.1:p.Pro685ArgfsTer24 | |
| ENST00000558013.5:c.2054del | ENSP00000453346.1:p.Pro685ArgfsTer24 | |
| ENST00000558518.5:c.2054del | ENSP00000454071.1:p.Pro685ArgfsTer24 | |
| NM_000527.4:c.2054del , LRG_274t1:c.2054del | NP_000518.1:p.Pro685ArgfsTer24 | |
| NM_001195798.1:c.2054del | NP_001182727.1:p.Pro685ArgfsTer24 | |
| NM_001195799.1:c.1931del | NP_001182728.1:p.Pro644ArgfsTer24 | |
| NM_001195800.1:c.1550del | NP_001182729.1:p.Pro517ArgfsTer24 | |
| NM_001195803.1:c.1606+203del | NP_001182732.1:n.1606+203del | |
| XM_011528010.1:c.2054del | XP_011526312.1:p.Pro685ArgfsTer24 | |
| XM_011528011.1:c.1673del | XP_011526313.1:p.Pro558ArgfsTer24 | |
| XR_244074.2:n.2064del | ||
| XM_011528010.2:c.2054del | XP_011526312.1:p.Pro685ArgfsTer24 | |
| XR_001753685.2:n.2171del | ||
| XR_001753686.2:n.2031del | ||
| NM_000527.5:c.2054del MANE Select | NP_000518.1:p.Pro685ArgfsTer24 | |
| NM_001195798.2:c.2054del | NP_001182727.1:p.Pro685ArgfsTer24 | |
| NM_001195799.2:c.1931del | NP_001182728.1:p.Pro644ArgfsTer24 | |
| NM_001195800.2:c.1550del | NP_001182729.1:p.Pro517ArgfsTer24 | |
| NM_001195803.2:c.1606+203del | NP_001182732.1:n.1606+203del |