Linked Data
ClinVar Variation Id:
60777
ClinVar RCV Id:
RCV000054544
dbSNP Id:
rs397515454
gnomAD v4:
1-6477533-TG-T
PubMed:
PMID:23777631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6477538del , CM000663.2:g.6477538del | GRCh38 |
| NC_000001.10:g.6537598del , CM000663.1:g.6537598del | GRCh37 |
| NC_000001.9:g.6460185del | NCBI36 |
| NG_007978.1:g.47476del , LRG_262:g.47476del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340850.10:c.38del | ENSP00000344570.5:p.Pro13HisfsTer? | |
| ENST00000377728.8:c.38del MANE Select | ENSP00000366957.3:p.Pro13HisfsTer? | |
| ENST00000377740.5:c.38del | ENSP00000366969.4:p.Pro13HisfsTer? | |
| ENST00000377748.6:c.149del | ENSP00000366977.2:p.Pro50HisfsTer? | |
| ENST00000400913.6:c.38del | ENSP00000383704.1:p.Pro13HisfsTer? | |
| ENST00000400915.8:c.149del | ENSP00000383706.4:p.Pro50HisfsTer? | |
| ENST00000489097.6:n.55del | ||
| ENST00000535355.6:c.245del | ENSP00000441445.1:p.Pro82HisfsTer? | |
| ENST00000537245.6:c.149del | ENSP00000439625.2:p.Pro50HisfsTer? | |
| ENST00000673471.2:c.335del | ENSP00000500749.1:p.Pro112HisfsTer? | |
| ENST00000674790.1:c.*250del | ENSP00000502815.1:n.*250del | |
| ENST00000674803.1:n.268del | ||
| ENST00000675093.1:c.38del | ENSP00000502687.1:p.Pro13HisfsTer? | |
| ENST00000675123.1:c.38del | ENSP00000502132.1:p.Pro13HisfsTer? | |
| ENST00000675548.1:c.223del | ENSP00000502684.1:p.His75ThrfsTer? | |
| ENST00000675655.1:n.244del | ||
| ENST00000675694.1:c.38del | ENSP00000501925.1:p.Pro13HisfsTer? | |
| ENST00000676287.1:c.38del | ENSP00000502810.1:p.Pro13HisfsTer? | |
| ENST00000676362.1:n.261del | ||
| ENST00000340850.9:c.38del | ENSP00000344570.5:p.Pro13HisfsTer? | |
| ENST00000377725.5:c.38del | ENSP00000366954.1:p.Pro13HisfsTer? | |
| ENST00000377728.7:c.38del | ENSP00000366957.3:p.Pro13HisfsTer? | |
| ENST00000377732.5:c.149del | ENSP00000366961.1:p.Pro50HisfsTer? | |
| ENST00000377740.4:c.269del | ENSP00000366969.3:p.Pro90HisfsTer? | |
| ENST00000377748.5:c.269del | ENSP00000366977.1:p.Pro90HisfsTer? | |
| ENST00000400913.5:c.38del | ENSP00000383704.1:p.Pro13HisfsTer? | |
| ENST00000400915.7:c.206del | ENSP00000383706.3:p.Pro69HisfsTer? | |
| ENST00000489097.5:n.55del | ||
| ENST00000535355.5:c.245del | ENSP00000441445.1:p.Pro82HisfsTer? | |
| ENST00000537245.5:c.275del | ENSP00000439625.1:p.Pro92HisfsTer? | |
| NM_001042663.1:c.206del | NP_001036128.1:p.Pro69HisfsTer? | |
| NM_001042664.1:c.38del | NP_001036129.1:p.Pro13HisfsTer? | |
| NM_001042665.1:c.38del | NP_001036130.1:p.Pro13HisfsTer? | |
| NM_001265592.1:c.275del | NP_001252521.1:p.Pro92HisfsTer? | |
| NM_001265593.1:c.245del | NP_001252522.1:p.Pro82HisfsTer? | |
| NM_001265594.1:c.38del | NP_001252523.1:p.Pro13HisfsTer? | |
| NM_020631.4:c.38del | NP_065682.2:p.Pro13HisfsTer? | |
| NM_198681.3:c.269del | NP_941374.2:p.Pro90HisfsTer? | |
| NM_001042663.2:c.206del | NP_001036128.1:p.Pro69HisfsTer? | |
| NM_001265594.2:c.38del | NP_001252523.1:p.Pro13HisfsTer? | |
| NM_020631.5:c.38del | NP_065682.2:p.Pro13HisfsTer? | |
| NM_001042663.3:c.149del | NP_001036128.2:p.Pro50HisfsTer? | |
| NM_001265592.2:c.149del | NP_001252521.2:p.Pro50HisfsTer? | |
| NM_020631.6:c.38del MANE Select | NP_065682.2:p.Pro13HisfsTer? | |
| NM_198681.4:c.38del | NP_941374.3:p.Pro13HisfsTer? |