Linked Data
ClinVar Variation Id:
42151
ClinVar RCV Id:
RCV000034978
dbSNP Id:
rs386134151
PubMed:
PMID:20301666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149182048dup , CM000665.2:g.149182048dup | GRCh38 |
| NC_000003.11:g.148899835dup , CM000665.1:g.148899835dup | GRCh37 |
| NC_000003.10:g.150382525dup | NCBI36 |
| NG_011800.1:g.44998dup | |
| NG_011800.2:g.44998dup | |
| NG_011800.3:g.44998dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264613.11:c.2511dup MANE Select | ENSP00000264613.6:p.Gly838TrpfsTer16 | |
| ENST00000264613.10:c.2511dup | ENSP00000264613.6:p.Gly838TrpfsTer16 | |
| ENST00000481169.5:c.2298dup | ENSP00000418773.1:p.Gly767TrpfsTer16 | |
| ENST00000490639.5:n.2543dup | ||
| ENST00000494544.1:c.1860dup | ENSP00000420545.1:p.Gly621TrpfsTer16 | |
| NM_000096.3:c.2511dup | NP_000087.1:p.Gly838TrpfsTer16 | |
| NR_046371.1:n.2551dup | ||
| XM_006713499.2:c.2511dup | XP_006713562.1:p.Gly838TrpfsTer16 | |
| XM_006713500.2:c.2511dup | XP_006713563.1:p.Gly838TrpfsTer16 | |
| XM_006713501.2:c.2511dup | XP_006713564.1:p.Gly838TrpfsTer16 | |
| XM_006713502.2:c.2511dup | XP_006713565.1:p.Gly838TrpfsTer16 | |
| XM_011512435.1:c.2511dup | XP_011510737.1:p.Gly838TrpfsTer16 | |
| XR_427361.2:n.2769dup | ||
| XM_006713499.3:c.2511dup | XP_006713562.1:p.Gly838TrpfsTer16 | |
| XM_006713500.4:c.2511dup | XP_006713563.1:p.Gly838TrpfsTer16 | |
| XM_006713501.3:c.2511dup | XP_006713564.1:p.Gly838TrpfsTer16 | |
| XM_011512435.2:c.2511dup | XP_011510737.1:p.Gly838TrpfsTer16 | |
| XM_017005734.2:c.2511dup | XP_016861223.1:p.Gly838TrpfsTer16 | |
| XM_017005735.2:c.2511dup | XP_016861224.1:p.Gly838TrpfsTer16 | |
| XR_427361.3:n.2727dup | ||
| NM_000096.4:c.2511dup MANE Select | NP_000087.2:p.Gly838TrpfsTer16 | |
| NR_046371.2:n.2335dup |