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:
42154
ClinVar RCV Id:
RCV000034981
dbSNP Id:
rs386134153
gnomAD v3:
3-149178602-CAG-C
gnomAD v4:
3-149178602-CAG-C
PubMed:
PMID:20301666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149178603_149178604del , CM000665.2:g.149178603_149178604del | GRCh38 |
| NC_000003.11:g.148896390_148896391del , CM000665.1:g.148896390_148896391del | GRCh37 |
| NC_000003.10:g.150379080_150379081del | NCBI36 |
| NG_011800.1:g.48442_48443del | |
| NG_011800.2:g.48442_48443del | |
| NG_011800.3:g.48442_48443del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.2689_2690del MANE Select | ENSP00000264613.6:p.Leu897AspfsTer27 | |
| ENST00000264613.10:c.2689_2690del | ENSP00000264613.6:p.Leu897AspfsTer27 | |
| ENST00000460674.5:n.606_607del | ||
| ENST00000463556.5:n.211_212del | ||
| ENST00000479771.5:c.94_95del | ENSP00000420367.1:p.Leu32AspfsTer27 | |
| ENST00000481169.5:c.2476_2477del | ENSP00000418773.1:p.Leu826AspfsTer27 | |
| ENST00000490639.5:n.2721_2722del | ||
| ENST00000494544.1:c.2038_2039del | ENSP00000420545.1:p.Leu680AspfsTer27 | |
| NM_000096.3:c.2689_2690del | NP_000087.1:p.Leu897AspfsTer27 | |
| NR_046371.1:n.2729_2730del | ||
| XM_006713499.2:c.2689_2690del | XP_006713562.1:p.Leu897AspfsTer27 | |
| XM_006713500.2:c.2689_2690del | XP_006713563.1:p.Leu897AspfsTer27 | |
| XM_006713501.2:c.2689_2690del | XP_006713564.1:p.Leu897AspfsTer27 | |
| XM_011512435.1:c.2689_2690del | XP_011510737.1:p.Leu897AspfsTer27 | |
| XR_427361.2:n.2947_2948del | ||
| XM_006713499.3:c.2689_2690del | XP_006713562.1:p.Leu897AspfsTer27 | |
| XM_006713500.4:c.2689_2690del | XP_006713563.1:p.Leu897AspfsTer27 | |
| XM_006713501.3:c.2689_2690del | XP_006713564.1:p.Leu897AspfsTer27 | |
| XM_011512435.2:c.2689_2690del | XP_011510737.1:p.Leu897AspfsTer27 | |
| XM_017005734.2:c.2689_2690del | XP_016861223.1:p.Leu897AspfsTer27 | |
| XM_017005735.2:c.2689_2690del | XP_016861224.1:p.Leu897AspfsTer27 | |
| XR_427361.3:n.2905_2906del | ||
| NM_000096.4:c.2689_2690del MANE Select | NP_000087.2:p.Leu897AspfsTer27 | |
| NR_046371.2:n.2513_2514del |