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:
14142
ClinVar RCV Id:
RCV000015205
dbSNP Id:
rs879255230
PubMed:
PMID:16642020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10640086_10640088del , CM000679.2:g.10640086_10640088del | GRCh38 |
| NC_000017.10:g.10543403_10543405del , CM000679.1:g.10543403_10543405del | GRCh37 |
| NC_000017.9:g.10484128_10484130del | NCBI36 |
| NG_011537.1:g.22211_22213del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000583535.6:c.2590_2592del MANE Select | ENSP00000464317.1:p.Leu864del | |
| ENST00000583535.5:c.2590_2592del | ENSP00000464317.1:p.Leu864del | |
| NM_002470.3:c.2590_2592del | NP_002461.2:p.Leu864del | |
| XM_011523870.1:c.2590_2592del | XP_011522172.1:p.Leu864del | |
| XM_011523871.1:c.2590_2592del | XP_011522173.1:p.Leu864del | |
| XM_011523872.1:c.2590_2592del | XP_011522174.1:p.Leu864del | |
| XM_011523870.3:c.2590_2592del | XP_011522172.1:p.Leu864del | |
| XM_011523871.2:c.2590_2592del | XP_011522173.1:p.Leu864del | |
| NM_002470.4:c.2590_2592del MANE Select | NP_002461.2:p.Leu864del |