Linked Data
ClinVar Variation Id:
435424
dbSNP Id:
rs762703502
ExAC:
12:121432114 CG / C
gnomAD v2:
12-121432114-CG-C
gnomAD v3:
12-120994311-CG-C
gnomAD v4:
12-120994311-CG-C
MyVariant Identifiers:
chr12:g.121432117del (hg19)
chr12:g.121432115del (hg19)
chr12:g.120994314del (hg38)
chr12:g.120994313del (hg38)
chr12:g.120994312del (hg38)
ERepo:
CA6831842/MONDO:0015967/017
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120994314del , CM000674.2:g.120994314del | GRCh38 |
| NC_000012.11:g.121432117del , CM000674.1:g.121432117del | GRCh37 |
| NC_000012.10:g.119916500del | NCBI36 |
| NG_011731.2:g.20569del , LRG_522:g.20569del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.750+114del | ENSP00000453965.2:n.750+114del | |
| ENST00000257555.11:c.864del MANE Select | ENSP00000257555.5:p.Pro291GlnfsTer? | |
| ENST00000257555.10:c.864del | ENSP00000257555.4:p.Pro291GlnfsTer? | |
| ENST00000400024.6:c.864del | ENSP00000476181.1:p.Pro291GlnfsTer? | |
| ENST00000402929.5:n.999del | ||
| ENST00000535955.5:n.43-3177del | ||
| ENST00000538626.2:n.191-3177del | ||
| ENST00000538646.5:c.677del | ENSP00000443964.1:p.Gly226AlafsTer28 | |
| ENST00000540108.1:c.*304del | ENSP00000445445.1:n.*304del | |
| ENST00000541395.5:c.864del | ENSP00000443112.1:p.Pro291GlnfsTer? | |
| ENST00000541924.5:c.713+608del | ENSP00000440361.1:n.713+608del | |
| ENST00000543427.5:c.633+688del | ENSP00000439721.2:n.633+688del | |
| ENST00000544413.2:c.864del | ENSP00000438804.1:p.Pro291GlnfsTer? | |
| ENST00000544574.5:c.73-2303del | ENSP00000438565.1:n.73-2303del | |
| ENST00000560968.5:c.893+114del | ||
| ENST00000615446.4:c.-257-1948del | ENSP00000483994.1:n.-257-1948del | |
| ENST00000617366.4:c.586+735del | ENSP00000481967.1:n.586+735del | |
| NM_000545.5:c.864del , LRG_522t1:c.864del | NP_000536.5:p.Pro291GlnfsTer? | |
| NM_000545.6:c.864del | NP_000536.5:p.Pro291GlnfsTer? | |
| NM_001306179.1:c.864del | NP_001293108.1:p.Pro291GlnfsTer? | |
| XM_005253931.2:c.864del | XP_005253988.1:p.Pro291GlnfsTer? | |
| XM_024449168.1:c.864del | XP_024304936.1:p.Pro291GlnfsTer? | |
| NM_000545.8:c.864del MANE Select | NP_000536.6:p.Pro291GlnfsTer? | |
| NM_001306179.2:c.864del | NP_001293108.2:p.Pro291GlnfsTer? |