Linked Data
dbSNP Id:
rs193922596
MyVariant Identifiers:
chr12:g.121426684_121426686dupGCA (hg19)
chr12:g.120988881_120988883dupGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120988881_120988883dup , CM000674.2:g.120988881_120988883dup | GRCh38 |
| NC_000012.11:g.121426684_121426686dup , CM000674.1:g.121426684_121426686dup | GRCh37 |
| NC_000012.10:g.119911067_119911069dup | NCBI36 |
| NG_011731.2:g.15136_15138dup , LRG_522:g.15136_15138dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560968.6:c.375_377dup | ENSP00000453965.2:p.Gln125_His126insGln | |
| ENST00000257555.11:c.375_377dup MANE Select | ENSP00000257555.5:p.Gln125_His126insGln | |
| ENST00000257555.10:c.375_377dup | ENSP00000257555.4:p.Gln125_His126insGln | |
| ENST00000400024.6:c.375_377dup | ENSP00000476181.1:p.Gln125_His126insGln | |
| ENST00000402929.5:n.510_512dup | ||
| ENST00000535955.5:n.43-8610_43-8608dup | ||
| ENST00000538626.2:n.191-8610_191-8608dup | ||
| ENST00000538646.5:c.375_377dup | ENSP00000443964.1:p.Gln125_His126insGln | |
| ENST00000540108.1:c.327-4639_327-4637dup | ENSP00000445445.1:n.327-4639_327-4637dup | |
| ENST00000541395.5:c.375_377dup | ENSP00000443112.1:p.Gln125_His126insGln | |
| ENST00000541924.5:c.375_377dup | ENSP00000440361.1:p.Gln125_His126insGln | |
| ENST00000543427.5:c.375_377dup | ENSP00000439721.2:p.Gln125_His126insGln | |
| ENST00000544413.2:c.375_377dup | ENSP00000438804.1:p.Gln125_His126insGln | |
| ENST00000544574.5:c.73-7736_73-7734dup | ENSP00000438565.1:n.73-7736_73-7734dup | |
| ENST00000560968.5:c.518_520dup | ||
| ENST00000615446.4:c.-257-7381_-257-7379dup | ENSP00000483994.1:n.-257-7381_-257-7379du... | |
| ENST00000617366.4:c.375_377dup | ENSP00000481967.1:p.Gln125_His126insGln | |
| NM_000545.5:c.375_377dup , LRG_522t1:c.375_377dup | NP_000536.5:p.Gln125_His126insGln | |
| NM_000545.6:c.375_377dup | NP_000536.5:p.Gln125_His126insGln | |
| NM_001306179.1:c.375_377dup | NP_001293108.1:p.Gln125_His126insGln | |
| XM_005253931.2:c.375_377dup | XP_005253988.1:p.Gln125_His126insGln | |
| XM_024449168.1:c.375_377dup | XP_024304936.1:p.Gln125_His126insGln | |
| NM_000545.8:c.375_377dup MANE Select | NP_000536.6:p.Gln125_His126insGln | |
| NM_001306179.2:c.375_377dup | NP_001293108.2:p.Gln125_His126insGln |