Linked Data
ClinVar Variation Id:
1525438
ClinVar RCV Id:
RCV002050354
dbSNP Id:
rs1724918747
gnomAD v4:
3-179219564-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179219565dup , CM000665.2:g.179219565dup | GRCh38 |
| NC_000003.11:g.178937353dup , CM000665.1:g.178937353dup | GRCh37 |
| NC_000003.10:g.180420047dup | NCBI36 |
| NG_012113.2:g.76043dup , LRG_310:g.76043dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1747-6dup MANE Select | ENSP00000263967.3:n.1747-6dup | |
| ENST00000462255.2:n.209-6dup | ||
| ENST00000643187.1:c.1747-6dup | ENSP00000493507.1:n.1747-6dup | |
| ENST00000674534.1:n.2649dup | ||
| ENST00000674622.1:c.168-6dup | ENSP00000502417.1:n.168-6dup | |
| ENST00000675467.1:n.4554-6dup | ||
| ENST00000675786.1:c.*314-6dup | ENSP00000502323.1:n.*314-6dup | |
| ENST00000263967.3:c.1747-6dup | ENSP00000263967.3:n.1747-6dup | |
| ENST00000462255.1:n.15dup | ||
| NM_006218.2:c.1747-6dup , LRG_310t1:c.1747-6dup | NP_006209.2:n.1747-6dup | |
| XM_006713658.2:c.1747-6dup | XP_006713721.1:n.1747-6dup | |
| XM_011512894.1:c.1747-6dup | XP_011511196.1:n.1747-6dup | |
| NM_006218.3:c.1747-6dup | NP_006209.2:n.1747-6dup | |
| XM_006713658.4:c.1747-6dup | XP_006713721.1:n.1747-6dup | |
| XM_011512894.2:c.1747-6dup | XP_011511196.1:n.1747-6dup | |
| NM_006218.4:c.1747-6dup MANE Select | NP_006209.2:n.1747-6dup |