Linked Data
ClinVar Variation Id:
551580
ClinVar RCV Id:
RCV000666679
dbSNP Id:
rs1398106709
gnomAD v2:
3-165547557-CCAA-C
gnomAD v3:
3-165829769-CCAA-C
gnomAD v4:
3-165829769-CCAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829775_165829777del , CM000665.2:g.165829775_165829777del | GRCh38 |
| NC_000003.11:g.165547563_165547565del , CM000665.1:g.165547563_165547565del | GRCh37 |
| NC_000003.10:g.167030257_167030259del | NCBI36 |
| NG_009031.1:g.12694_12696del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1262_1264del MANE Select | ENSP00000264381.3:p.Val421del | |
| ENST00000264381.7:c.1262_1264del | ENSP00000264381.3:p.Val421del | |
| ENST00000479451.5:c.107+7542_107+7544del | ENSP00000418325.1:n.107+7542_107+7544del | |
| ENST00000482958.1:c.1262_1264del | ENSP00000419804.1:p.Val421del | |
| ENST00000488954.1:c.107+7542_107+7544del | ENSP00000418504.1:n.107+7542_107+7544del | |
| ENST00000497011.5:c.1262_1264del | ENSP00000419505.1:p.Val421del | |
| NM_000055.2:c.1262_1264del | NP_000046.1:p.Val421del | |
| XM_005247685.1:c.1385_1387del | XP_005247742.1:p.Val462del | |
| NM_000055.3:c.1262_1264del | NP_000046.1:p.Val421del | |
| NR_137635.1:n.159+7542_159+7544del | ||
| NR_137636.1:n.1429_1431del | ||
| NM_000055.4:c.1262_1264del MANE Select | NP_000046.1:p.Val421del | |
| NR_137635.2:n.110+7542_110+7544del | ||
| NR_137636.2:n.1380_1382del |