Linked Data
ClinVar Variation Id:
370351
ClinVar RCV Id:
RCV000409490
dbSNP Id:
rs1057516421
gnomAD v2:
12-121177175-CTG-C
gnomAD v4:
12-120739372-CTG-C
PubMed:
PMID:22241096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739373_120739374del , CM000674.2:g.120739373_120739374del | GRCh38 |
| NC_000012.11:g.121177176_121177177del , CM000674.1:g.121177176_121177177del | GRCh37 |
| NC_000012.10:g.119661559_119661560del | NCBI36 |
| NG_007991.1:g.18606_18607del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.1164_1165del MANE Select | ENSP00000242592.4:p.Glu389AspfsTer? | |
| ENST00000242592.8:c.1164_1165del | ENSP00000242592.4:p.Glu389AspfsTer? | |
| ENST00000411593.2:c.1152_1153del | ENSP00000401045.2:p.Glu385AspfsTer? | |
| NM_000017.3:c.1164_1165del | NP_000008.1:p.Glu389AspfsTer? | |
| NM_001302554.1:c.1152_1153del | NP_001289483.1:p.Glu385AspfsTer? | |
| NM_000017.4:c.1164_1165del MANE Select | NP_000008.1:p.Glu389AspfsTer? | |
| NM_001302554.2:c.1152_1153del | NP_001289483.1:p.Glu385AspfsTer? |