UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
187828
ClinVar RCV Id:
RCV000169640
dbSNP Id:
rs786200962
PubMed:
PMID:25735478
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13298768del , CM000681.2:g.13298768del | GRCh38 |
| NC_000019.9:g.13409582del , CM000681.1:g.13409582del | GRCh37 |
| NC_000019.8:g.13270582del | NCBI36 |
| NG_011569.1:g.212693del , LRG_7:g.212693del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360228.11:c.2865del MANE Select | ENSP00000353362.5:p.Arg956AspfsTer? | |
| ENST00000573710.7:c.2871del | ENSP00000460092.3:p.Arg958AspfsTer? | |
| ENST00000635727.1:c.2868del | ENSP00000490001.1:p.Arg957AspfsTer? | |
| ENST00000635895.1:c.2868del | ENSP00000490323.1:p.Arg957AspfsTer? | |
| ENST00000636012.1:c.2868del | ENSP00000490223.1:p.Arg957AspfsTer? | |
| ENST00000636389.1:c.2868del | ENSP00000489992.1:p.Arg957AspfsTer? | |
| ENST00000636549.1:c.2868del | ENSP00000490578.1:p.Arg957AspfsTer? | |
| ENST00000637276.1:c.2868del | ENSP00000489777.1:p.Arg957AspfsTer? | |
| ENST00000637432.1:c.2877del | ENSP00000490617.1:p.Arg960AspfsTer? | |
| ENST00000637736.1:c.2727del | ENSP00000489861.1:p.Arg910AspfsTer? | |
| ENST00000637769.1:c.2868del | ENSP00000489778.1:p.Arg957AspfsTer? | |
| ENST00000637927.1:c.2871del | ENSP00000489715.1:p.Arg958AspfsTer? | |
| ENST00000638009.2:c.2868del | ENSP00000489913.1:p.Arg957AspfsTer? | |
| ENST00000638029.1:c.2877del | ENSP00000489829.1:p.Arg960AspfsTer? | |
| ENST00000664864.1:c.3063del | ENSP00000499449.1:p.Arg1022AspfsTer? | |
| ENST00000360228.9:c.2865del | ENSP00000353362.5:p.Arg956AspfsTer? | |
| ENST00000573710.6:c.2868del | ENSP00000460092.2:p.Arg957AspfsTer? | |
| ENST00000614285.4:c.2877del | ENSP00000479983.1:p.Arg960AspfsTer? | |
| NM_000068.3:c.2877del | NP_000059.3:p.Arg960AspfsTer? | |
| NM_001127221.1:c.2868del , LRG_7t1:c.2868del | NP_001120693.1:p.Arg957AspfsTer? | |
| NM_001127222.1:c.2865del | NP_001120694.1:p.Arg956AspfsTer? | |
| NM_001174080.1:c.2868del | NP_001167551.1:p.Arg957AspfsTer? | |
| NM_023035.2:c.2877del | NP_075461.2:p.Arg960AspfsTer? | |
| NM_000068.4:c.2877del | NP_000059.3:p.Arg960AspfsTer? | |
| NM_001127222.2:c.2865del MANE Select | NP_001120694.1:p.Arg956AspfsTer? | |
| NM_001174080.2:c.2868del | NP_001167551.1:p.Arg957AspfsTer? | |
| NM_023035.3:c.2877del | NP_075461.2:p.Arg960AspfsTer? | |
| NM_001127221.2:c.2868del | NP_001120693.1:p.Arg957AspfsTer? |