Linked Data
ClinVar Variation Id:
128142
dbSNP Id:
rs587776426
gnomAD v4:
16-23603563-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603564dup , CM000678.2:g.23603564dup | GRCh38 |
| NC_000016.9:g.23614885dup , CM000678.1:g.23614885dup | GRCh37 |
| NC_000016.8:g.23522386dup | NCBI36 |
| NG_007406.1:g.42794dup , LRG_308:g.42794dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.3462dup | ENSP00000460666.3:p.Pro1155ThrfsTer4 | |
| ENST00000565038.2:c.*941dup | ENSP00000459882.2:n.*941dup | |
| ENST00000566069.6:c.*91dup | ENSP00000459237.2:n.*91dup | |
| ENST00000697377.2:c.3300dup | ENSP00000513286.2:p.Pro1101ThrfsTer4 | |
| ENST00000697379.2:c.3462dup | ENSP00000513287.2:p.Pro1155ThrfsTer4 | |
| ENST00000561514.2:c.2571dup | ENSP00000460666.2:p.Pro858ThrfsTer4 | |
| ENST00000697374.1:c.2571dup | ENSP00000513284.1:p.Pro858ThrfsTer4 | |
| ENST00000697375.1:n.4803dup | ||
| ENST00000697376.1:c.*91dup | ENSP00000513285.1:n.*91dup | |
| ENST00000697377.1:c.2409dup | ENSP00000513286.1:p.Pro804ThrfsTer4 | |
| ENST00000697378.1:n.3976dup | ||
| ENST00000697379.1:c.2571dup | ENSP00000513287.1:p.Pro858ThrfsTer4 | |
| ENST00000697380.1:n.2660dup | ||
| ENST00000697381.1:n.2151dup | ||
| ENST00000697382.1:c.*233dup | ENSP00000513288.1:n.*233dup | |
| ENST00000697383.1:c.990dup | ENSP00000513289.1:p.Pro331ThrfsTer4 | |
| ENST00000261584.9:c.3456dup MANE Select | ENSP00000261584.4:p.Pro1153ThrfsTer4 | |
| ENST00000261584.8:c.3456dup | ENSP00000261584.4:p.Pro1153ThrfsTer4 | |
| ENST00000566069.5:c.222dup | ||
| ENST00000568219.5:c.2571dup | ENSP00000454703.2:p.Pro858ThrfsTer4 | |
| NM_024675.3:c.3456dup , LRG_308t1:c.3456dup | NP_078951.2:p.Pro1153ThrfsTer4 | |
| XM_011545946.1:c.3462dup | XP_011544248.1:p.Pro1155ThrfsTer4 | |
| XM_011545947.1:c.*91dup | XP_011544249.1:n.*91dup | |
| XM_011545948.1:c.2571dup | XP_011544250.1:p.Pro858ThrfsTer4 | |
| XR_950851.1:n.4164dup | ||
| XM_011545946.2:c.3462dup | XP_011544248.1:p.Pro1155ThrfsTer4 | |
| XM_011545947.2:c.*91dup | XP_011544249.1:n.*91dup | |
| XM_011545948.2:c.2571dup | XP_011544250.1:p.Pro858ThrfsTer4 | |
| XM_017023671.1:c.3225dup | XP_016879160.1:p.Pro1076ThrfsTer4 | |
| XM_017023672.2:c.3219dup | XP_016879161.1:p.Pro1074ThrfsTer4 | |
| XM_017023673.2:c.*91dup | XP_016879162.1:n.*91dup | |
| NM_024675.4:c.3456dup MANE Select | NP_078951.2:p.Pro1153ThrfsTer4 |