Linked Data
dbSNP Id:
rs1941256265
gnomAD v3:
12-52651842-T-TGCTGCCGCCTCCAAAACC
gnomAD v4:
12-52651842-T-TGCTGCCGCCTCCAAAACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651843_52651860dup , CM000674.2:g.52651843_52651860dup | GRCh38 |
| NC_000012.11:g.53045627_53045644dup , CM000674.1:g.53045627_53045644dup | GRCh37 |
| NC_000012.10:g.51331894_51331911dup | NCBI36 |
| NG_008296.1:g.5316_5333dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.283_300dup MANE Select | ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGlySer | |
| ENST00000309680.3:c.283_300dup | ENSP00000310861.3:p.Ser100_Ser101insGlyPheGlyGlyGlySer | |
| NM_000423.2:c.283_300dup | NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGlySer | |
| NM_000423.3:c.283_300dup MANE Select | NP_000414.2:p.Ser100_Ser101insGlyPheGlyGlyGlySer |