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:
37072
ClinVar RCV Id:
RCV000030722
dbSNP Id:
rs398122879
PubMed:
PMID:22795537
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118504159del , CM000673.2:g.118504159del | GRCh38 |
| NC_000011.9:g.118374874del , CM000673.1:g.118374874del | GRCh37 |
| NC_000011.8:g.117880084del | NCBI36 |
| NG_027813.1:g.72670del , LRG_613:g.72670del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531904.7:c.8366del | ENSP00000432391.3:p.Leu2789Ter | |
| ENST00000710560.1:c.8357del | ENSP00000518343.1:p.Leu2786Ter | |
| ENST00000649878.2:c.2306del | ENSP00000497891.2:p.Leu769Ter | |
| ENST00000685397.1:c.2306del | ENSP00000509586.1:p.Leu769Ter | |
| ENST00000686370.1:c.2306del | ENSP00000509179.1:p.Leu769Ter | |
| ENST00000689424.1:c.2564del | ENSP00000509852.1:p.Leu855Ter | |
| ENST00000691053.1:c.8339del | ENSP00000509168.1:p.Leu2780Ter | |
| ENST00000389506.10:c.8258del | ENSP00000374157.5:p.Leu2753Ter | |
| ENST00000528278.2:n.7609del | ||
| ENST00000534358.8:c.8267del MANE Select | ENSP00000436786.2:p.Leu2756Ter | |
| ENST00000649699.1:c.8144del | ENSP00000496927.1:p.Leu2715Ter | |
| ENST00000389506.9:c.8258del | ENSP00000374157.5:p.Leu2753Ter | |
| ENST00000534358.5:c.8267del | ENSP00000436786.1:p.Leu2756Ter | |
| NM_001197104.1:c.8267del , LRG_613t1:c.8267del | NP_001184033.1:p.Leu2756Ter | |
| NM_005933.3:c.8258del | NP_005924.2:p.Leu2753Ter | |
| XM_006718839.2:c.5750del | XP_006718902.2:p.Leu1917Ter | |
| XM_011542829.1:c.8366del | XP_011541131.1:p.Leu2789Ter | |
| XM_011542830.1:c.8363del | XP_011541132.1:p.Leu2788Ter | |
| XM_011542831.1:c.8357del | XP_011541133.1:p.Leu2786Ter | |
| XM_011542832.1:c.6173del | XP_011541134.1:p.Leu2058Ter | |
| XM_011542833.1:c.5849del | XP_011541135.1:p.Leu1950Ter | |
| XM_006718839.3:c.5750del | XP_006718902.2:p.Leu1917Ter | |
| XM_011542829.2:c.8366del | XP_011541131.1:p.Leu2789Ter | |
| XM_011542830.2:c.8363del | XP_011541132.1:p.Leu2788Ter | |
| XM_011542831.2:c.8357del | XP_011541133.1:p.Leu2786Ter | |
| XM_011542833.2:c.5849del | XP_011541135.1:p.Leu1950Ter | |
| NM_001197104.2:c.8267del MANE Select | NP_001184033.1:p.Leu2756Ter | |
| NM_005933.4:c.8258del | NP_005924.2:p.Leu2753Ter |