Linked Data
ClinVar Variation Id:
3833
dbSNP Id:
rs387906308
ExAC:
12:121174883 TGGA / T
gnomAD v2:
12-121174883-TGGA-T
gnomAD v3:
12-120737080-TGGA-T
gnomAD v4:
12-120737080-TGGA-T
MyVariant Identifiers:
chr12:g.121174888_121174890del (hg19)
chr12:g.121174884_121174886del (hg19)
chr12:g.120737085_120737087del (hg38)
chr12:g.120737082_120737084del (hg38)
chr12:g.120737081_120737083del (hg38)
PubMed:
PMID:11134486
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737085_120737087del , CM000674.2:g.120737085_120737087del | GRCh38 |
| NC_000012.11:g.121174888_121174890del , CM000674.1:g.121174888_121174890del | GRCh37 |
| NC_000012.10:g.119659271_119659273del | NCBI36 |
| NG_007991.1:g.16318_16320del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.310_312del MANE Select | ENSP00000242592.4:p.Glu104del | |
| ENST00000242592.8:c.310_312del | ENSP00000242592.4:p.Glu104del | |
| ENST00000411593.2:c.310_312del | ENSP00000401045.2:p.Glu104del | |
| ENST00000539690.1:n.422_424del | ||
| NM_000017.3:c.310_312del | NP_000008.1:p.Glu104del | |
| NM_001302554.1:c.310_312del | NP_001289483.1:p.Glu104del | |
| NM_000017.4:c.310_312del MANE Select | NP_000008.1:p.Glu104del | |
| NM_001302554.2:c.310_312del | NP_001289483.1:p.Glu104del |