Linked Data
ClinVar Variation Id:
246045
dbSNP Id:
rs879254062
gnomAD v2:
16-23652466-G-GA
gnomAD v3:
16-23641145-G-GA
gnomAD v4:
16-23641145-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23641146dup , CM000678.2:g.23641146dup | GRCh38 |
| NC_000016.9:g.23652467dup , CM000678.1:g.23652467dup | GRCh37 |
| NC_000016.8:g.23559968dup | NCBI36 |
| NG_007406.1:g.5212dup , LRG_308:g.5212dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.-841dup | ENSP00000460666.3:n.-841dup | |
| ENST00000565038.2:c.12dup | ENSP00000459882.2:p.Pro5SerfsTer8 | |
| ENST00000566069.6:c.12dup | ENSP00000459237.2:p.Pro5SerfsTer8 | |
| ENST00000697377.2:c.-228dup | ENSP00000513286.2:n.-228dup | |
| ENST00000697379.2:c.-134dup | ENSP00000513287.2:n.-134dup | |
| ENST00000561514.2:c.-1732dup | ENSP00000460666.2:n.-1732dup | |
| ENST00000697374.1:c.-1323dup | ENSP00000513284.1:n.-1323dup | |
| ENST00000697376.1:c.-1044dup | ENSP00000513285.1:n.-1044dup | |
| ENST00000697377.1:c.-1119dup | ENSP00000513286.1:n.-1119dup | |
| ENST00000697379.1:c.-1025dup | ENSP00000513287.1:n.-1025dup | |
| ENST00000697382.1:c.-1783dup | ENSP00000513288.1:n.-1783dup | |
| ENST00000697383.1:c.12dup | ENSP00000513289.1:p.Pro5SerfsTer8 | |
| ENST00000697384.1:n.166dup | ||
| ENST00000261584.9:c.12dup MANE Select | ENSP00000261584.4:p.Pro5SerfsTer8 | |
| ENST00000261584.8:c.12dup | ENSP00000261584.4:p.Pro5SerfsTer8 | |
| ENST00000567003.1:n.156dup | ||
| ENST00000568219.5:c.-857dup | ENSP00000454703.2:n.-857dup | |
| NM_024675.3:c.12dup , LRG_308t1:c.12dup | NP_078951.2:p.Pro5SerfsTer8 | |
| XM_011545948.1:c.-1008dup | XP_011544250.1:n.-1008dup | |
| XM_011545946.2:c.-841dup | XP_011544248.1:n.-841dup | |
| XM_011545947.2:c.-841dup | XP_011544249.1:n.-841dup | |
| XM_011545948.2:c.-1008dup | XP_011544250.1:n.-1008dup | |
| XM_017023671.1:c.-841dup | XP_016879160.1:n.-841dup | |
| XM_017023672.2:c.12dup | XP_016879161.1:p.Pro5SerfsTer8 | |
| XM_017023673.2:c.12dup | XP_016879162.1:p.Pro5SerfsTer8 | |
| NM_024675.4:c.12dup MANE Select | NP_078951.2:p.Pro5SerfsTer8 |