Linked Data
dbSNP Id:
rs1481084248
gnomAD v2:
12-58144247-A-AGCTGAGAT
gnomAD v4:
12-57750464-A-AGCTGAGAT
MyVariant Identifiers:
chr12:g.58144247_58144248insGCTGAGAT (hg19)
chr12:g.57750464_57750465insGCTGAGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57750466_57750473dup , CM000674.2:g.57750466_57750473dup | GRCh38 |
| NC_000012.11:g.58144249_58144256dup , CM000674.1:g.58144249_58144256dup | GRCh37 |
| NC_000012.10:g.56430516_56430523dup | NCBI36 |
| NG_007484.2:g.6910_6917dup , LRG_490:g.6910_6917dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.632+184_632+191dup MANE Select | ENSP00000257904.5:n.632+184_632+191dup | |
| ENST00000257904.10:c.632+184_632+191dup | ENSP00000257904.5:n.632+184_632+191dup | |
| ENST00000312990.10:c.280+184_280+191dup | ENSP00000316889.6:n.280+184_280+191dup | |
| ENST00000546489.5:c.410+184_410+191dup | ENSP00000447779.1:n.410+184_410+191dup | |
| ENST00000547281.5:c.410+184_410+191dup | ENSP00000447274.1:n.410+184_410+191dup | |
| ENST00000549606.5:c.-157-968_-157-961dup | ENSP00000447005.1:n.-157-968_-157-961dup | |
| ENST00000550419.5:c.*8_*15dup | ENSP00000448098.1:n.*8_*15dup | |
| ENST00000551888.5:n.458+184_458+191dup | ||
| ENST00000553237.5:c.*271+184_*271+191dup | ENSP00000448885.1:n.*271+184_*271+191dup | |
| NM_000075.3:c.632+184_632+191dup | NP_000066.1:n.632+184_632+191dup | |
| NM_000075.4:c.632+184_632+191dup MANE Select | NP_000066.1:n.632+184_632+191dup |