Linked Data
dbSNP Id:
rs1256901971
gnomAD v2:
12-58157488-G-GGGGTGGGAC
gnomAD v4:
12-57763705-G-GGGGTGGGAC
MyVariant Identifiers:
chr12:g.58157488_58157489insGGGTGGGAC (hg19)
chr12:g.57763705_57763706insGGGTGGGAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763706_57763714dup , CM000674.2:g.57763706_57763714dup | GRCh38 |
| NC_000012.11:g.58157489_58157497dup , CM000674.1:g.58157489_58157497dup | GRCh37 |
| NC_000012.10:g.56443756_56443764dup | NCBI36 |
| NG_007076.1:g.8480_8488dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1391_1399dup | ENSP00000518840.1:p.Thr466_Pro467insArgPr... | |
| ENST00000713545.1:c.*315_*323dup | ENSP00000518841.1:n.*315_*323dup | |
| ENST00000228606.9:c.1310_1318dup MANE Select | ENSP00000228606.4:p.Thr439_Pro440insArgPr... | |
| ENST00000228606.8:c.1310_1318dup | ENSP00000228606.4:p.Thr439_Pro440insArgPr... | |
| ENST00000547344.5:n.1449_1457dup | ||
| NM_000785.3:c.1310_1318dup | NP_000776.1:p.Thr439_Pro440insArgProThr | |
| NM_000785.4:c.1310_1318dup MANE Select | NP_000776.1:p.Thr439_Pro440insArgProThr |