Linked Data
dbSNP Id:
rs776566122
ExAC:
3:165547429 TCA / T
gnomAD v2:
3-165547429-TCA-T
gnomAD v4:
3-165829641-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829643_165829644del , CM000665.2:g.165829643_165829644del | GRCh38 |
| NC_000003.11:g.165547431_165547432del , CM000665.1:g.165547431_165547432del | GRCh37 |
| NC_000003.10:g.167030125_167030126del | NCBI36 |
| NG_009031.1:g.12823_12824del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1391_1392del MANE Select | ENSP00000264381.3:p.Val464AspfsTer5 | |
| ENST00000264381.7:c.1391_1392del | ENSP00000264381.3:p.Val464AspfsTer5 | |
| ENST00000479451.5:c.107+7671_107+7672del | ENSP00000418325.1:n.107+7671_107+7672del | |
| ENST00000482958.1:c.1391_1392del | ENSP00000419804.1:p.Val464AspfsTer5 | |
| ENST00000488954.1:c.107+7671_107+7672del | ENSP00000418504.1:n.107+7671_107+7672del | |
| ENST00000497011.5:c.1391_1392del | ENSP00000419505.1:p.Val464AspfsTer5 | |
| NM_000055.2:c.1391_1392del | NP_000046.1:p.Val464AspfsTer5 | |
| XM_005247685.1:c.1514_1515del | XP_005247742.1:p.Val505AspfsTer5 | |
| NM_000055.3:c.1391_1392del | NP_000046.1:p.Val464AspfsTer5 | |
| NR_137635.1:n.159+7671_159+7672del | ||
| NR_137636.1:n.1558_1559del | ||
| NM_000055.4:c.1391_1392del MANE Select | NP_000046.1:p.Val464AspfsTer5 | |
| NR_137635.2:n.110+7671_110+7672del | ||
| NR_137636.2:n.1509_1510del |