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:
90562
ClinVar RCV Id:
RCV000076058
dbSNP Id:
rs63749850
PubMed:
PMID:10882759
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47429861_47429862dup , CM000664.2:g.47429861_47429862dup | GRCh38 |
| NC_000002.11:g.47657000_47657001dup , CM000664.1:g.47657000_47657001dup | GRCh37 |
| NC_000002.10:g.47510504_47510505dup | NCBI36 |
| NG_007110.2:g.31738_31739dup , LRG_218:g.31738_31739dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644900.2:c.1196_1197dup | ENSP00000495641.2:p.Asn400GlnfsTer13 | |
| ENST00000233146.7:c.1196_1197dup MANE Select | ENSP00000233146.2:p.Asn400GlnfsTer13 | |
| ENST00000543555.6:c.998_999dup | ENSP00000442697.1:p.Asn334GlnfsTer13 | |
| ENST00000644092.1:c.1196_1197dup | ENSP00000496351.1:p.Asn400GlnfsTer13 | |
| ENST00000645339.1:c.1196_1197dup | ENSP00000496441.1:p.Asn400GlnfsTer13 | |
| ENST00000645506.1:c.1196_1197dup | ENSP00000495455.1:p.Asn400GlnfsTer13 | |
| ENST00000646415.1:c.1196_1197dup | ENSP00000495543.1:p.Asn400GlnfsTer13 | |
| ENST00000233146.6:c.1196_1197dup | ENSP00000233146.2:p.Asn400GlnfsTer13 | |
| ENST00000406134.5:c.1196_1197dup | ENSP00000384199.1:p.Asn400GlnfsTer13 | |
| ENST00000543555.5:c.998_999dup | ENSP00000442697.1:p.Asn334GlnfsTer13 | |
| ENST00000610696.4:c.1196_1197dup | ENSP00000483159.1:p.Asn400GlnfsTer13 | |
| ENST00000613514.4:c.1196_1197dup | ENSP00000484137.1:p.Asn400GlnfsTer13 | |
| ENST00000617333.3:c.1195_1196dup | ENSP00000482468.1:p.Gln399HisfsTer18 | |
| ENST00000617938.4:c.*168_*169dup | ENSP00000481158.1:n.*168_*169dup | |
| ENST00000621359.2:c.1196_1197dup | ENSP00000481416.1:p.Asn400GlnfsTer13 | |
| NM_000251.2:c.1196_1197dup , LRG_218t1:c.1196_1197dup | NP_000242.1:p.Asn400GlnfsTer13 | |
| NM_001258281.1:c.998_999dup | NP_001245210.1:p.Asn334GlnfsTer13 | |
| XM_005264332.2:c.1196_1197dup | XP_005264389.2:p.Asn400GlnfsTer13 | |
| XM_011532867.1:c.1196_1197dup | XP_011531169.1:p.Asn400GlnfsTer13 | |
| XR_939685.1:n.1268_1269dup | ||
| XM_005264332.4:c.1196_1197dup | XP_005264389.2:p.Asn400GlnfsTer13 | |
| XM_011532867.2:c.1196_1197dup | XP_011531169.1:p.Asn400GlnfsTer13 | |
| XR_001738747.2:n.1258_1259dup | ||
| XR_939685.2:n.1258_1259dup | ||
| NM_000251.3:c.1196_1197dup MANE Select | NP_000242.1:p.Asn400GlnfsTer13 |