Linked Data
ClinVar Variation Id:
805637
dbSNP Id:
rs587776825
ExAC:
12:121432117 GC / G
gnomAD v2:
12-121432117-GC-G
gnomAD v4:
12-120994314-GC-G
MyVariant Identifiers:
chr12:g.121432125del (hg19)
chr12:g.121432118del (hg19)
chr12:g.120994315del (hg38)
ERepo:
CA6831848/MONDO:0015967/017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120994322del , CM000674.2:g.120994322del | GRCh38 |
| NC_000012.11:g.121432125del , CM000674.1:g.121432125del | GRCh37 |
| NC_000012.10:g.119916508del | NCBI36 |
| NG_011731.2:g.20577del , LRG_522:g.20577del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.750+122del | ENSP00000453965.2:n.750+122del | |
| ENST00000257555.11:c.872del MANE Select | ENSP00000257555.5:p.Pro291GlnfsTer? | |
| ENST00000257555.10:c.872del | ENSP00000257555.4:p.Pro291GlnfsTer? | |
| ENST00000400024.6:c.872del | ENSP00000476181.1:p.Pro291GlnfsTer? | |
| ENST00000402929.5:n.1007del | ||
| ENST00000535955.5:n.43-3169del | ||
| ENST00000538626.2:n.191-3169del | ||
| ENST00000538646.5:c.685del | ENSP00000443964.1:p.Gln229ArgfsTer25 | |
| ENST00000540108.1:c.*312del | ENSP00000445445.1:n.*312del | |
| ENST00000541395.5:c.872del | ENSP00000443112.1:p.Pro291GlnfsTer? | |
| ENST00000541924.5:c.713+616del | ENSP00000440361.1:n.713+616del | |
| ENST00000543427.5:c.633+696del | ENSP00000439721.2:n.633+696del | |
| ENST00000544413.2:c.872del | ENSP00000438804.1:p.Pro291GlnfsTer? | |
| ENST00000544574.5:c.73-2295del | ENSP00000438565.1:n.73-2295del | |
| ENST00000560968.5:c.893+122del | ||
| ENST00000615446.4:c.-257-1940del | ENSP00000483994.1:n.-257-1940del | |
| ENST00000617366.4:c.586+743del | ENSP00000481967.1:n.586+743del | |
| NM_000545.5:c.872del , LRG_522t1:c.872del | NP_000536.5:p.Pro291GlnfsTer? | |
| NM_000545.6:c.872del | NP_000536.5:p.Pro291GlnfsTer? | |
| NM_001306179.1:c.872del | NP_001293108.1:p.Pro291GlnfsTer? | |
| XM_005253931.2:c.872del | XP_005253988.1:p.Pro291GlnfsTer? | |
| XM_024449168.1:c.872del | XP_024304936.1:p.Pro291GlnfsTer? | |
| NM_000545.8:c.872del MANE Select | NP_000536.6:p.Pro291GlnfsTer? | |
| NM_001306179.2:c.872del | NP_001293108.2:p.Pro291GlnfsTer? |