Linked Data
ClinVar Variation Id:
39090
ClinVar RCV Id:
RCV000032357
dbSNP Id:
rs281864966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101771073dup , CM000674.2:g.101771073dup | GRCh38 |
| NC_000012.11:g.102164851dup , CM000674.1:g.102164851dup | GRCh37 |
| NC_000012.10:g.100688982dup | NCBI36 |
| NG_021243.1:g.64796dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.857dup MANE Select | ENSP00000299314.7:p.Asn287GlufsTer5 | |
| ENST00000299314.11:c.857dup | ENSP00000299314.7:p.Asn287GlufsTer5 | |
| ENST00000549940.5:c.857dup | ENSP00000449150.1:p.Asn287GlufsTer5 | |
| NM_024312.4:c.857dup | NP_077288.2:p.Asn287GlufsTer5 | |
| XM_006719593.2:c.857dup | XP_006719656.1:p.Asn287GlufsTer5 | |
| XM_011538731.1:c.776dup | XP_011537033.1:p.Asn260GlufsTer5 | |
| XM_006719593.3:c.857dup | XP_006719656.1:p.Asn287GlufsTer5 | |
| XM_011538731.2:c.776dup | XP_011537033.1:p.Asn260GlufsTer5 | |
| XM_017019961.1:c.641dup | XP_016875450.1:p.Asn215GlufsTer5 | |
| XM_017019962.2:c.-494dup | XP_016875451.1:n.-494dup | |
| NM_024312.5:c.857dup MANE Select | NP_077288.2:p.Asn287GlufsTer5 |