Linked Data
ClinVar Variation Id:
1599218
ClinVar RCV Id:
RCV002115735
dbSNP Id:
rs771058414
ExAC:
4:106967841 G / GA
gnomAD v2:
4-106967841-G-GA
gnomAD v3:
4-106046684-G-GA
gnomAD v4:
4-106046684-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106046693dup , CM000666.2:g.106046693dup | GRCh38 |
| NC_000004.11:g.106967850dup , CM000666.1:g.106967850dup | GRCh37 |
| NC_000004.10:g.107187299dup | NCBI36 |
| NG_034057.2:g.279811dup | |
| NG_034057.3:g.274999dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273980.10:c.2572-5dup | ENSP00000273980.4:n.2572-5dup | |
| ENST00000394708.7:c.2572-5dup MANE Select | ENSP00000378198.2:n.2572-5dup | |
| ENST00000273980.9:c.2572-5dup | ENSP00000273980.4:n.2572-5dup | |
| ENST00000361687.8:c.2383-5dup | ENSP00000355338.4:n.2383-5dup | |
| ENST00000394706.7:c.2455-5dup | ENSP00000378196.3:n.2455-5dup | |
| ENST00000394708.6:c.2572-5dup | ENSP00000378198.2:n.2572-5dup | |
| ENST00000432496.6:c.2572-5dup | ENSP00000405847.2:n.2572-5dup | |
| ENST00000467183.6:c.*2211-5dup | ENSP00000421182.1:n.*2211-5dup | |
| ENST00000510927.5:n.2225-5dup | ||
| NM_001163435.2:c.2572-5dup | NP_001156907.1:n.2572-5dup | |
| NM_001163436.2:c.2572-5dup | NP_001156908.1:n.2572-5dup | |
| NM_001163437.2:c.2455-5dup | NP_001156909.1:n.2455-5dup | |
| NM_001290768.1:c.2056-5dup | NP_001277697.1:n.2056-5dup | |
| NM_033115.4:c.2383-5dup | NP_149106.2:n.2383-5dup | |
| XM_011532417.1:c.2572-5dup | XP_011530719.1:n.2572-5dup | |
| XM_011532418.1:c.2254-5dup | XP_011530720.1:n.2254-5dup | |
| XM_011532419.1:c.2056-5dup | XP_011530721.1:n.2056-5dup | |
| XM_011532417.2:c.2572-5dup | XP_011530719.1:n.2572-5dup | |
| XM_017008846.1:c.2572-5dup | XP_016864335.1:n.2572-5dup | |
| XM_017008848.1:c.2254-5dup | XP_016864337.1:n.2254-5dup | |
| XM_017008849.1:c.2056-5dup | XP_016864338.1:n.2056-5dup | |
| XM_024454281.1:c.2572-5dup | XP_024310049.1:n.2572-5dup | |
| XM_024454282.1:c.2572-5dup | XP_024310050.1:n.2572-5dup | |
| XR_002959772.1:n.2766-5dup | ||
| NM_001163435.3:c.2572-5dup MANE Select | NP_001156907.2:n.2572-5dup | |
| NM_001163436.4:c.2572-5dup | NP_001156908.2:n.2572-5dup | |
| NM_001163437.3:c.2455-5dup | NP_001156909.2:n.2455-5dup | |
| NM_001290768.2:c.2056-5dup | NP_001277697.2:n.2056-5dup | |
| NM_033115.5:c.2383-5dup | NP_149106.3:n.2383-5dup |