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:
182840
dbSNP Id:
rs730881935
ExAC:
17:33434123 CT / C
gnomAD v2:
17-33434123-CT-C
gnomAD v4:
17-35107104-CT-C
PubMed:
PMID:21822267
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35107105del , CM000679.2:g.35107105del | GRCh38 |
| NC_000017.10:g.33434124del , CM000679.1:g.33434124del | GRCh37 |
| NC_000017.9:g.30458237del | NCBI36 |
| NG_031858.1:g.17765del , LRG_516:g.17765del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000586186.3:c.345+261del | ENSP00000468273.3:n.345+261del | |
| ENST00000587405.6:c.6del | ENSP00000466478.2:p.Ala3GlnfsTer14 | |
| ENST00000590016.6:c.423del | ENSP00000466399.1:p.Ala142GlnfsTer14 | |
| ENST00000590631.2:n.437-624del | ||
| ENST00000592577.6:c.6del | ENSP00000466839.2:p.Ala3GlnfsTer14 | |
| ENST00000345365.11:c.363del MANE Select | ENSP00000338790.6:p.Ala122GlnfsTer14 | |
| ENST00000335858.11:c.145-624del | ENSP00000338408.6:n.145-624del | |
| ENST00000345365.10:c.363del | ENSP00000338790.6:p.Ala122GlnfsTer14 | |
| ENST00000394589.8:c.363del | ENSP00000378090.4:p.Ala122GlnfsTer14 | |
| ENST00000415064.6:n.513del | ||
| ENST00000460118.6:c.-125-44del | ENSP00000464356.2:n.-125-44del | |
| ENST00000585343.5:c.445del | ||
| ENST00000585947.5:n.259del | ||
| ENST00000585982.5:n.500+261del | ||
| ENST00000586044.5:c.*94del | ENSP00000465584.1:n.*94del | |
| ENST00000586186.2:c.248+261del | ||
| ENST00000586210.5:c.281del | ENSP00000465612.1:p.Gln94ArgfsTer? | |
| ENST00000587405.5:c.6del | ENSP00000466478.1:p.Ala3GlnfsTer14 | |
| ENST00000587977.5:c.*103del | ENSP00000466587.1:n.*103del | |
| ENST00000587982.5:n.273+261del | ||
| ENST00000588372.5:c.6del | ENSP00000468764.1:p.Ala3GlnfsTer14 | |
| ENST00000588594.5:c.*76+261del | ENSP00000465366.1:n.*76+261del | |
| ENST00000590016.5:c.423del | ENSP00000466399.1:p.Ala142GlnfsTer14 | |
| ENST00000590631.1:c.-51-624del | ENSP00000465033.1:n.-51-624del | |
| ENST00000591723.5:c.-52+261del | ENSP00000467986.1:n.-52+261del | |
| ENST00000592181.1:c.6del | ENSP00000464799.1:p.Ala3GlnfsTer14 | |
| ENST00000592430.5:n.332del | ||
| ENST00000592577.5:c.369del | ENSP00000466839.1:p.Ala124GlnfsTer14 | |
| ENST00000592850.5:c.346-624del | ||
| ENST00000592928.2:n.167-624del | ||
| ENST00000593039.5:c.4-624del | ENSP00000466834.1:n.4-624del | |
| NM_001142571.1:c.423del | NP_001136043.1:p.Ala142GlnfsTer14 | |
| NM_002878.3:c.363del , LRG_516t1:c.363del | NP_002869.3:p.Ala122GlnfsTer14 | |
| NM_133629.2:c.145-624del | NP_598332.1:n.145-624del | |
| NR_037711.1:n.500del | ||
| NR_037712.1:n.482+261del | ||
| NR_037714.1:n.233-624del | ||
| NM_001142571.2:c.423del | NP_001136043.1:p.Ala142GlnfsTer14 | |
| NM_133629.3:c.145-624del | NP_598332.1:n.145-624del | |
| NR_037711.2:n.389del | ||
| NR_037712.2:n.371+261del | ||
| NM_002878.4:c.363del MANE Select | NP_002869.3:p.Ala122GlnfsTer14 |