Linked Data
ClinVar Variation Id:
161590
ClinVar RCV Id:
RCV000149126
dbSNP Id:
rs193920793
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.55268071dup , CM000679.2:g.55268071dup | GRCh38 |
| NC_000017.10:g.53345432dup , CM000679.1:g.53345432dup | GRCh37 |
| NC_000017.9:g.50700431dup | NCBI36 |
| NG_046944.1:g.8112dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226067.10:c.436dup MANE Select | ENSP00000226067.5:p.Ser146LysfsTer20 | |
| ENST00000226067.9:c.436dup | ENSP00000226067.5:p.Ser146LysfsTer20 | |
| ENST00000430986.6:c.181dup | ENSP00000402496.2:p.Ser61LysfsTer20 | |
| ENST00000570962.1:c.181dup | ENSP00000460265.1:p.Ser61LysfsTer? | |
| ENST00000572002.1:c.256dup | ENSP00000461455.1:p.Ser86LysfsTer20 | |
| ENST00000573945.5:c.181dup | ENSP00000460296.1:p.Ser61LysfsTer20 | |
| ENST00000575345.5:c.181dup | ENSP00000460572.1:p.Ser61LysfsTer20 | |
| NM_002126.4:c.436dup | NP_002117.1:p.Ser146LysfsTer20 | |
| XM_005257269.1:c.436dup | XP_005257326.1:p.Ser146LysfsTer20 | |
| XM_011524705.1:c.181dup | XP_011523007.1:p.Ser61LysfsTer20 | |
| NM_001330375.1:c.181dup | NP_001317304.1:p.Ser61LysfsTer20 | |
| XM_005257269.3:c.436dup | XP_005257326.1:p.Ser146LysfsTer20 | |
| XR_002957996.1:n.961dup | ||
| NM_002126.5:c.436dup MANE Select | NP_002117.1:p.Ser146LysfsTer20 | |
| NM_001330375.2:c.181dup | NP_001317304.1:p.Ser61LysfsTer20 |