Linked Data
dbSNP Id:
rs1360117548
gnomAD v4:
12-55721602-A-AGAAGC
MyVariant Identifiers:
chr12:g.56115386_56115387insGAAGC (hg19)
chr12:g.55721602_55721603insGAAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55721603_55721607dup , CM000674.2:g.55721603_55721607dup | GRCh38 |
| NC_000012.11:g.56115387_56115391dup , CM000674.1:g.56115387_56115391dup | GRCh37 |
| NC_000012.10:g.54401654_54401658dup | NCBI36 |
| NG_008606.1:g.6237_6241dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257895.10:c.311-86_311-82dup MANE Select | ENSP00000257895.6:n.311-86_311-82dup | |
| ENST00000257895.9:c.311-86_311-82dup | ENSP00000257895.5:n.311-86_311-82dup | |
| ENST00000257899.3:c.326-86_326-82dup | ||
| ENST00000547072.5:c.20-86_20-82dup | ENSP00000449927.1:n.20-86_20-82dup | |
| ENST00000547301.1:n.333_337dup | ||
| ENST00000548082.1:c.311-86_311-82dup | ENSP00000447128.1:n.311-86_311-82dup | |
| ENST00000548123.1:c.300+109_300+113dup | ||
| ENST00000548486.1:n.321-86_321-82dup | ||
| ENST00000549424.1:c.118-86_118-82dup | ENSP00000447621.1:n.118-86_118-82dup | |
| ENST00000550412.5:c.352-86_352-82dup | ENSP00000447650.1:n.352-86_352-82dup | |
| ENST00000550608.1:n.450-86_450-82dup | ||
| ENST00000551946.5:c.*114-86_*114-82dup | ENSP00000450201.1:n.*114-86_*114-82dup | |
| ENST00000552930.5:c.20-86_20-82dup | ENSP00000448014.1:n.20-86_20-82dup | |
| ENST00000553160.1:n.406-592_406-588dup | ||
| ENST00000553187.5:n.321-86_321-82dup | ||
| NM_001199771.1:c.311-86_311-82dup | NP_001186700.1:n.311-86_311-82dup | |
| NM_002905.3:c.311-86_311-82dup | NP_002896.2:n.311-86_311-82dup | |
| NR_037658.1:n.370-86_370-82dup | ||
| NM_001199771.2:c.311-86_311-82dup | NP_001186700.1:n.311-86_311-82dup | |
| NM_002905.5:c.311-86_311-82dup MANE Select | NP_002896.2:n.311-86_311-82dup | |
| NM_001199771.3:c.311-86_311-82dup | NP_001186700.1:n.311-86_311-82dup |