Linked Data
ClinVar Variation Id:
212452
ClinVar RCV Id:
RCV000194772
dbSNP Id:
rs797046055
gnomAD v4:
17-75523743-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75523746dup , CM000679.2:g.75523746dup | GRCh38 |
| NC_000017.10:g.73519827dup , CM000679.1:g.73519827dup | GRCh37 |
| NC_000017.9:g.71031422dup | NCBI36 |
| NG_013041.1:g.12219dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333213.11:c.1397dup MANE Select | ENSP00000327487.6:p.Gly467TrpfsTer10 | |
| ENST00000434205.8:c.1094dup | ENSP00000406559.4:p.Gly366TrpfsTer10 | |
| ENST00000545228.3:c.1585dup | ENSP00000438169.3:p.Leu529ProfsTer? | |
| ENST00000577197.2:n.595dup | ||
| ENST00000579449.2:n.2137dup | ||
| ENST00000580013.6:n.2541dup | ||
| ENST00000679370.1:n.2919dup | ||
| ENST00000679429.1:c.*855dup | ENSP00000505403.1:n.*855dup | |
| ENST00000679443.1:n.1466dup | ||
| ENST00000679782.1:c.*96dup | ENSP00000505995.1:n.*96dup | |
| ENST00000679919.1:n.1668dup | ||
| ENST00000679928.1:c.*1949dup | ENSP00000506071.1:n.*1949dup | |
| ENST00000680528.1:n.2363dup | ||
| ENST00000680999.1:c.1610dup | ENSP00000504984.1:p.Gly538TrpfsTer10 | |
| ENST00000681282.1:c.*1584dup | ENSP00000506339.1:n.*1584dup | |
| ENST00000333213.10:c.1397dup | ENSP00000327487.6:p.Gly467TrpfsTer10 | |
| ENST00000545228.2:c.674dup | ||
| ENST00000577197.1:n.145dup | ||
| ENST00000579449.1:n.594dup | ||
| NM_207346.2:c.1397dup | NP_997229.2:p.Gly467TrpfsTer10 | |
| XM_005257229.2:c.1585dup | XP_005257286.1:p.Leu529ProfsTer? | |
| XM_006721821.2:c.1282dup | XP_006721884.1:p.Leu428ProfsTer? | |
| XM_011524616.1:c.1501+411dup | XP_011522918.1:n.1501+411dup | |
| XM_011524617.1:c.*12+411dup | XP_011522919.1:n.*12+411dup | |
| XM_011524618.1:c.1313+411dup | XP_011522920.1:n.1313+411dup | |
| XR_243646.2:n.1629dup | ||
| XM_005257229.4:c.1585dup | XP_005257286.1:p.Leu529ProfsTer? | |
| XR_001753015.1:n.88-376dup | ||
| XR_001753016.1:n.89-340dup | ||
| XR_243646.4:n.1635dup | ||
| NM_207346.3:c.1397dup MANE Select | NP_997229.2:p.Gly467TrpfsTer10 |