Linked Data
ClinVar Variation Id:
1179065
ClinVar RCV Id:
RCV001535889
dbSNP Id:
rs2150736865
gnomAD v4:
4-122742983-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122742987_122742988del , CM000666.2:g.122742987_122742988del | GRCh38 |
| NC_000004.11:g.123664142_123664143del , CM000666.1:g.123664142_123664143del | GRCh37 |
| NC_000004.10:g.123883592_123883593del | NCBI36 |
| NG_021203.1:g.15286_15287del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314218.8:c.1095_1096del MANE Select | ENSP00000319062.3:p.Asn366LeufsTer7 | |
| ENST00000314218.7:c.1095_1096del | ENSP00000319062.3:p.Asn366LeufsTer7 | |
| ENST00000542236.5:c.1095_1096del | ENSP00000438273.1:p.Asn366LeufsTer7 | |
| NM_001178007.1:c.1095_1096del | NP_001171478.1:p.Asn366LeufsTer7 | |
| NM_152618.2:c.1095_1096del | NP_689831.2:p.Asn366LeufsTer7 | |
| XM_011531680.1:c.1095_1096del | XP_011529982.1:p.Asn366LeufsTer7 | |
| XM_011531680.2:c.1095_1096del | XP_011529982.1:p.Asn366LeufsTer7 | |
| XM_017007831.1:c.1095_1096del | XP_016863320.1:p.Asn366LeufsTer7 | |
| NM_152618.3:c.1095_1096del MANE Select | NP_689831.2:p.Asn366LeufsTer7 | |
| NM_001178007.2:c.1095_1096del | NP_001171478.1:p.Asn366LeufsTer7 |