Linked Data
dbSNP Id:
rs759679732
ExAC:
3:165547647 AACTC / A
gnomAD v2:
3-165547647-AACTC-A
gnomAD v4:
3-165829859-AACTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829868_165829871del , CM000665.2:g.165829868_165829871del | GRCh38 |
| NC_000003.11:g.165547656_165547659del , CM000665.1:g.165547656_165547659del | GRCh37 |
| NC_000003.10:g.167030350_167030353del | NCBI36 |
| NG_009031.1:g.12603_12606del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1171_1174del MANE Select | ENSP00000264381.3:p.Glu391LeufsTer14 | |
| ENST00000264381.7:c.1171_1174del | ENSP00000264381.3:p.Glu391LeufsTer14 | |
| ENST00000479451.5:c.107+7451_107+7454del | ENSP00000418325.1:n.107+7451_107+7454del | |
| ENST00000482958.1:c.1171_1174del | ENSP00000419804.1:p.Glu391LeufsTer14 | |
| ENST00000488954.1:c.107+7451_107+7454del | ENSP00000418504.1:n.107+7451_107+7454del | |
| ENST00000497011.5:c.1171_1174del | ENSP00000419505.1:p.Glu391LeufsTer14 | |
| NM_000055.2:c.1171_1174del | NP_000046.1:p.Glu391LeufsTer14 | |
| XM_005247685.1:c.1294_1297del | XP_005247742.1:p.Glu432LeufsTer14 | |
| NM_000055.3:c.1171_1174del | NP_000046.1:p.Glu391LeufsTer14 | |
| NR_137635.1:n.159+7451_159+7454del | ||
| NR_137636.1:n.1338_1341del | ||
| NM_000055.4:c.1171_1174del MANE Select | NP_000046.1:p.Glu391LeufsTer14 | |
| NR_137635.2:n.110+7451_110+7454del | ||
| NR_137636.2:n.1289_1292del |