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:
225687
ClinVar RCV Id:
RCV000211028
dbSNP Id:
rs879255266
PubMed:
PMID:25925986
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107953678del , CM000669.2:g.107953678del | GRCh38 |
| NC_000007.13:g.107594123del , CM000669.1:g.107594123del | GRCh37 |
| NC_000007.12:g.107381359del | NCBI36 |
| NG_023255.1:g.54682del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222399.11:c.2931del MANE Select | ENSP00000222399.6:p.Gln977HisfsTer? | |
| ENST00000393561.6:c.2520del | ENSP00000377191.2:p.Gln840HisfsTer? | |
| ENST00000676574.1:c.2931del | ENSP00000503081.1:p.Gln977HisfsTer? | |
| ENST00000676777.1:c.2931del | ENSP00000504756.1:p.Gln977HisfsTer? | |
| ENST00000676920.1:c.2520del | ENSP00000503814.1:p.Gln840HisfsTer? | |
| ENST00000677101.1:c.*2567del | ENSP00000503156.1:n.*2567del | |
| ENST00000677144.1:c.2699del | ENSP00000503049.1:p.Ser900MetfsTer6 | |
| ENST00000677485.1:n.4155del | ||
| ENST00000677588.1:c.2931del | ENSP00000502938.1:p.Gln977HisfsTer? | |
| ENST00000677652.1:n.3120del | ||
| ENST00000677793.1:c.2931del | ENSP00000504020.1:p.Gln977HisfsTer? | |
| ENST00000677801.1:c.2520del | ENSP00000503438.1:p.Gln840HisfsTer? | |
| ENST00000677994.1:n.3097del | ||
| ENST00000678232.1:n.3120del | ||
| ENST00000678266.1:n.3073del | ||
| ENST00000678346.1:c.*2567del | ENSP00000504349.1:n.*2567del | |
| ENST00000678698.1:c.2520del | ENSP00000503198.1:p.Gln840HisfsTer? | |
| ENST00000678704.1:c.*1513del | ENSP00000504589.1:n.*1513del | |
| ENST00000678892.1:c.2931del | ENSP00000504841.1:p.Gln977HisfsTer? | |
| ENST00000679173.1:n.3120del | ||
| ENST00000679200.1:c.2520del | ENSP00000503498.1:p.Gln840HisfsTer? | |
| ENST00000679244.1:c.2931del | ENSP00000504656.1:p.Gln977HisfsTer? | |
| ENST00000222399.10:c.2931del | ENSP00000222399.6:p.Gln977HisfsTer? | |
| ENST00000393561.5:c.3003del | ENSP00000377191.1:p.Gln1001HisfsTer? | |
| NM_002291.2:c.2931del | NP_002282.2:p.Gln977HisfsTer? | |
| XM_011516203.1:c.2931del | XP_011514505.1:p.Gln977HisfsTer? | |
| XM_017012201.1:c.3003del | XP_016867690.1:p.Gln1001HisfsTer? | |
| XM_017012202.1:c.3003del | XP_016867691.1:p.Gln1001HisfsTer? | |
| XR_001744756.1:n.3734del | ||
| NM_002291.3:c.2931del MANE Select | NP_002282.2:p.Gln977HisfsTer? |