Linked Data
dbSNP Id:
rs772141216
ExAC:
12:121426606 T / TTGCC
gnomAD v2:
12-121426606-T-TTGCC
gnomAD v4:
12-120988803-T-TTGCC
MyVariant Identifiers:
chr12:g.121426606_121426607insTGCC (hg19)
chr12:g.120988803_120988804insTGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120988803_120988804insTGCC , CM000674.2:g.120988803_120988804insTGCC | GRCh38 |
| NC_000012.11:g.121426606_121426607insTGCC , CM000674.1:g.121426606_121426607insTGCC | GRCh37 |
| NC_000012.10:g.119910989_119910990insTGCC | NCBI36 |
| NG_011731.2:g.15058_15059insTGCC , LRG_522:g.15058_15059insTGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.327-30_327-29insTGCC | ENSP00000453965.2:n.327-30_327-29insTGCC | |
| ENST00000257555.11:c.327-30_327-29insTGCC MANE Select | ENSP00000257555.5:n.327-30_327-29insTGCC | |
| ENST00000257555.10:c.327-30_327-29insTGCC | ENSP00000257555.4:n.327-30_327-29insTGCC | |
| ENST00000400024.6:c.327-30_327-29insTGCC | ENSP00000476181.1:n.327-30_327-29insTGCC | |
| ENST00000402929.5:n.462-30_462-29insTGCC | ||
| ENST00000535955.5:n.43-8688_43-8687insTGCC | ||
| ENST00000538626.2:n.191-8688_191-8687insTGCC | ||
| ENST00000538646.5:c.327-30_327-29insTGCC | ENSP00000443964.1:n.327-30_327-29insTGCC | |
| ENST00000540108.1:c.327-4717_327-4716insTGCC | ENSP00000445445.1:n.327-4717_327-4716insTGCC | |
| ENST00000541395.5:c.327-30_327-29insTGCC | ENSP00000443112.1:n.327-30_327-29insTGCC | |
| ENST00000541924.5:c.327-30_327-29insTGCC | ENSP00000440361.1:n.327-30_327-29insTGCC | |
| ENST00000543427.5:c.327-30_327-29insTGCC | ENSP00000439721.2:n.327-30_327-29insTGCC | |
| ENST00000544413.2:c.327-30_327-29insTGCC | ENSP00000438804.1:n.327-30_327-29insTGCC | |
| ENST00000544574.5:c.73-7814_73-7813insTGCC | ENSP00000438565.1:n.73-7814_73-7813insTGCC | |
| ENST00000560968.5:c.470-30_470-29insTGCC | ||
| ENST00000615446.4:c.-257-7459_-257-7458insTGCC | ENSP00000483994.1:n.-257-7459_-257-7458insTGCC | |
| ENST00000617366.4:c.327-30_327-29insTGCC | ENSP00000481967.1:n.327-30_327-29insTGCC | |
| NM_000545.5:c.327-30_327-29insTGCC , LRG_522t1:c.327-30_327-29insTGCC | NP_000536.5:n.327-30_327-29insTGCC | |
| NM_000545.6:c.327-30_327-29insTGCC | NP_000536.5:n.327-30_327-29insTGCC | |
| NM_001306179.1:c.327-30_327-29insTGCC | NP_001293108.1:n.327-30_327-29insTGCC | |
| XM_005253931.2:c.327-30_327-29insTGCC | XP_005253988.1:n.327-30_327-29insTGCC | |
| XM_024449168.1:c.327-30_327-29insTGCC | XP_024304936.1:n.327-30_327-29insTGCC | |
| NM_000545.8:c.327-30_327-29insTGCC MANE Select | NP_000536.6:n.327-30_327-29insTGCC | |
| NM_001306179.2:c.327-30_327-29insTGCC | NP_001293108.2:n.327-30_327-29insTGCC |