Linked Data
ClinVar Variation Id:
557960
dbSNP Id:
rs1554312698
MyVariant Identifiers:
chr6:g.128883328_128883330dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.128883328_128883330dup , CM000668.2:g.128883328_128883330dup | GRCh38 |
| NC_000006.11:g.129204473_129204475dup , CM000668.1:g.129204473_129204475dup | GRCh37 |
| NC_000006.10:g.129246166_129246168dup | NCBI36 |
| NG_008678.1:g.5188_5190dup , LRG_409:g.5188_5190dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466230.2:c.14_16dup | ENSP00000509691.1:p.Gln5_Arg6insGln | |
| ENST00000617695.5:c.83_85dup | ENSP00000481744.2:p.Gln28_Arg29insGln | |
| ENST00000618192.5:c.83_85dup | ENSP00000480802.2:p.Gln28_Arg29insGln | |
| ENST00000686577.1:n.149_151dup | ||
| ENST00000686599.1:n.188_190dup | ||
| ENST00000421865.3:c.83_85dup MANE Select | ENSP00000400365.2:p.Gln28_Arg29insGln | |
| ENST00000421865.2:c.83_85dup | ENSP00000400365.2:p.Gln28_Arg29insGln | |
| ENST00000466230.1:n.14_16dup | ||
| ENST00000617695.4:c.83_85dup | ENSP00000481744.1:p.Gln28_Arg29insGln | |
| ENST00000618192.4:c.83_85dup | ENSP00000480802.1:p.Gln28_Arg29insGln | |
| NM_000426.3:c.83_85dup , LRG_409t1:c.83_85dup | NP_000417.2:p.Gln28_Arg29insGln | |
| NM_001079823.1:c.83_85dup | NP_001073291.1:p.Gln28_Arg29insGln | |
| XM_005266981.2:c.83_85dup | XP_005267038.1:p.Gln28_Arg29insGln | |
| XM_005266982.2:c.83_85dup | XP_005267039.1:p.Gln28_Arg29insGln | |
| XM_011535820.1:c.83_85dup | XP_011534122.1:p.Gln28_Arg29insGln | |
| XM_005266981.3:c.83_85dup | XP_005267038.1:p.Gln28_Arg29insGln | |
| XM_005266982.3:c.83_85dup | XP_005267039.1:p.Gln28_Arg29insGln | |
| XM_011535820.2:c.83_85dup | XP_011534122.1:p.Gln28_Arg29insGln | |
| XM_017010853.1:c.83_85dup | XP_016866342.1:p.Gln28_Arg29insGln | |
| NM_000426.4:c.83_85dup MANE Select | NP_000417.3:p.Gln28_Arg29insGln | |
| NM_001079823.2:c.83_85dup | NP_001073291.2:p.Gln28_Arg29insGln |