Linked Data
ClinVar Variation Id:
411979
dbSNP Id:
rs1553619976
PubMed:
PMID:24727139
ERepo:
CA16611276/MONDO:0008667/078
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146595dup , CM000665.2:g.10146595dup | GRCh38 |
| NC_000003.11:g.10188279dup , CM000665.1:g.10188279dup | GRCh37 |
| NC_000003.10:g.10163279dup | NCBI36 |
| NG_008212.3:g.9961dup , LRG_322:g.9961dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*99dup | ENSP00000512434.1:n.*99dup | |
| ENST00000696143.1:c.600-3192dup | ENSP00000512435.1:n.600-3192dup | |
| ENST00000696153.1:c.422dup | ENSP00000512444.1:p.Asn141LysfsTer3 | |
| ENST00000256474.3:c.422dup MANE Select | ENSP00000256474.3:p.Asn141LysfsTer3 | |
| ENST00000256474.2:c.422dup | ENSP00000256474.2:p.Asn141LysfsTer3 | |
| ENST00000345392.2:c.341-3192dup | ENSP00000344757.2:n.341-3192dup | |
| ENST00000477538.1:n.558dup | ||
| NM_000551.3:c.422dup , LRG_322t1:c.422dup | NP_000542.1:p.Asn141LysfsTer3 | |
| NM_198156.2:c.341-3192dup | NP_937799.1:n.341-3192dup | |
| XM_011534078.1:c.*99dup | XP_011532380.1:n.*99dup | |
| NM_001354723.1:c.*18-3192dup | NP_001341652.1:n.*18-3192dup | |
| NM_000551.4:c.422dup MANE Select | NP_000542.1:p.Asn141LysfsTer3 | |
| NM_001354723.2:c.*18-3192dup | NP_001341652.1:n.*18-3192dup | |
| NM_198156.3:c.341-3192dup | NP_937799.1:n.341-3192dup |