Linked Data
dbSNP Id:
rs759554602
ExAC:
3:142281267 CAG / C
gnomAD v2:
3-142281267-CAG-C
gnomAD v4:
3-142562425-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142562428_142562429del , CM000665.2:g.142562428_142562429del | GRCh38 |
| NC_000003.11:g.142281270_142281271del , CM000665.1:g.142281270_142281271del | GRCh37 |
| NC_000003.10:g.143763960_143763961del | NCBI36 |
| NG_008951.1:g.21400_21401del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350721.9:c.975_976del MANE Select | ENSP00000343741.4:p.Val327HisfsTer3 | |
| ENST00000515149.3:c.293-1006_293-1005del | ENSP00000425897.3:n.293-1006_293-1005del | |
| ENST00000653868.1:n.1004_1005del | ||
| ENST00000657914.1:n.3333_3334del | ||
| ENST00000659195.1:n.3040_3041del | ||
| ENST00000661310.1:c.975_976del | ENSP00000499589.1:p.Val327HisfsTer3 | |
| ENST00000350721.8:c.975_976del | ENSP00000343741.4:p.Val327HisfsTer3 | |
| ENST00000507148.1:c.293-79_293-78del | ENSP00000426595.1:n.293-79_293-78del | |
| ENST00000515149.2:c.18_19del | ENSP00000425897.2:p.Val8HisfsTer3 | |
| NM_001184.3:c.975_976del | NP_001175.2:p.Val327HisfsTer3 | |
| XM_011512924.1:c.975_976del | XP_011511226.1:p.Val327HisfsTer3 | |
| XM_011512925.1:c.975_976del | XP_011511227.1:p.Val327HisfsTer3 | |
| XM_011512926.1:c.975_976del | XP_011511228.1:p.Val327HisfsTer3 | |
| XM_011512927.1:c.975_976del | XP_011511229.1:p.Val327HisfsTer3 | |
| XR_924147.1:n.1064_1065del | ||
| XR_924148.1:n.1064_1065del | ||
| XR_924149.1:n.1064_1065del | ||
| NM_001354579.1:c.975_976del | NP_001341508.1:p.Val327HisfsTer3 | |
| XR_001740179.2:n.1064_1065del | ||
| XR_001740180.2:n.1064_1065del | ||
| XR_001740181.2:n.1064_1065del | ||
| XR_001740182.1:n.1064_1065del | ||
| XR_002959543.1:n.1064_1065del | ||
| XR_924148.2:n.1064_1065del | ||
| NM_001184.4:c.975_976del MANE Select | NP_001175.2:p.Val327HisfsTer3 | |
| NM_001354579.2:c.975_976del | NP_001341508.1:p.Val327HisfsTer3 |