Linked Data
ClinVar Variation Id:
236552
dbSNP Id:
rs387906391
gnomAD v3:
12-51914505-TCTC-T
gnomAD v4:
12-51914505-TCTC-T
MyVariant Identifiers:
chr12:g.52308293_52308295del (hg19)
chr12:g.52308290_52308292del (hg19)
chr12:g.51914509_51914511del (hg38)
chr12:g.51914506_51914508del (hg38)
PubMed:
PMID:8640225
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51914509_51914511del , CM000674.2:g.51914509_51914511del | GRCh38 |
| NC_000012.11:g.52308293_52308295del , CM000674.1:g.52308293_52308295del | GRCh37 |
| NC_000012.10:g.50594560_50594562del | NCBI36 |
| NG_009549.1:g.12092_12094del , LRG_543:g.12092_12094del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.426_428del | ENSP00000446724.2:p.Ser143del | |
| ENST00000551576.6:c.696_698del | ENSP00000455848.2:p.Ser233del | |
| ENST00000552678.2:c.696_698del | ENSP00000457394.2:p.Ser233del | |
| ENST00000388922.9:c.696_698del MANE Select | ENSP00000373574.4:p.Ser233del | |
| ENST00000388922.8:c.696_698del | ENSP00000373574.4:p.Ser233del | |
| ENST00000419526.6:c.174_176del | ENSP00000392492.2:p.Ser59del | |
| ENST00000547400.5:c.426_428del | ENSP00000446724.1:p.Ser143del | |
| ENST00000550683.5:c.738_740del | ENSP00000447884.1:p.Ser247del | |
| NM_000020.2:c.696_698del , LRG_543t1:c.696_698del | NP_000011.2:p.Ser233del | |
| NM_001077401.1:c.696_698del | NP_001070869.1:p.Ser233del | |
| XM_005269235.2:c.696_698del | XP_005269292.1:p.Ser233del | |
| XM_011539008.1:c.426_428del | XP_011537310.1:p.Ser143del | |
| XM_024449279.1:c.-94_-92del | XP_024305047.1:n.-94_-92del | |
| NM_000020.3:c.696_698del MANE Select | NP_000011.2:p.Ser233del | |
| NM_001077401.2:c.696_698del | NP_001070869.1:p.Ser233del |