Linked Data
dbSNP Id:
rs1565887289
gnomAD v2:
12-121435546-TG-T
gnomAD v4:
12-120997743-TG-T
MyVariant Identifiers:
chr12:g.121435547del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997745del , CM000674.2:g.120997745del | GRCh38 |
| NC_000012.11:g.121435548del , CM000674.1:g.121435548del | GRCh37 |
| NC_000012.10:g.119919931del | NCBI36 |
| NG_011731.2:g.24000del , LRG_522:g.24000del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*248+80del | ENSP00000453965.2:n.*248+80del | |
| ENST00000257555.11:c.1501+80del MANE Select | ENSP00000257555.5:n.1501+80del | |
| ENST00000257555.10:c.1501+80del | ENSP00000257555.4:n.1501+80del | |
| ENST00000400024.6:c.1581del | ENSP00000476181.1:p.Trp527CysfsTer18 | |
| ENST00000402929.5:n.2447del | ||
| ENST00000535955.5:n.297del | ||
| ENST00000538626.2:n.445del | ||
| ENST00000538646.5:c.*557del | ENSP00000443964.1:n.*557del | |
| ENST00000540108.1:c.*941+80del | ENSP00000445445.1:n.*941+80del | |
| ENST00000541395.5:c.1501+80del | ENSP00000443112.1:n.1501+80del | |
| ENST00000541924.5:c.*595del | ENSP00000440361.1:n.*595del | |
| ENST00000543255.1:n.625del | ||
| ENST00000543427.5:c.964+80del | ENSP00000439721.2:n.964+80del | |
| ENST00000544413.2:c.1501+80del | ENSP00000438804.1:n.1501+80del | |
| ENST00000544574.5:c.*344del | ENSP00000438565.1:n.*344del | |
| ENST00000560968.5:c.1318+80del | ||
| ENST00000615446.4:c.289+80del | ENSP00000483994.1:n.289+80del | |
| ENST00000617366.4:c.618+80del | ENSP00000481967.1:n.618+80del | |
| NM_000545.5:c.1501+80del , LRG_522t1:c.1501+80del | NP_000536.5:n.1501+80del | |
| NM_000545.6:c.1501+80del | NP_000536.5:n.1501+80del | |
| NM_001306179.1:c.1501+80del | NP_001293108.1:n.1501+80del | |
| XM_005253931.2:c.1501+80del | XP_005253988.1:n.1501+80del | |
| XM_024449168.1:c.1501+80del | XP_024304936.1:n.1501+80del | |
| NM_000545.8:c.1501+80del MANE Select | NP_000536.6:n.1501+80del | |
| NM_001306179.2:c.1501+80del | NP_001293108.2:n.1501+80del |