gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23613987dup , CM000678.2:g.23613987dup | GRCh38 |
| NC_000016.9:g.23625308dup , CM000678.1:g.23625308dup | GRCh37 |
| NC_000016.8:g.23532809dup | NCBI36 |
| NG_007406.1:g.32371dup , LRG_308:g.32371dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3207+17dup | ENSP00000460666.3:n.3207+17dup | |
| ENST00000565038.2:c.*682+17dup | ENSP00000459882.2:n.*682+17dup | |
| ENST00000566069.6:c.3201+17dup | ENSP00000459237.2:n.3201+17dup | |
| ENST00000697377.2:c.3045+17dup | ENSP00000513286.2:n.3045+17dup | |
| ENST00000697379.2:c.3207+17dup | ENSP00000513287.2:n.3207+17dup | |
| ENST00000561514.2:c.2316+17dup | ENSP00000460666.2:n.2316+17dup | |
| ENST00000697374.1:c.2316+17dup | ENSP00000513284.1:n.2316+17dup | |
| ENST00000697375.1:n.4548+17dup | ||
| ENST00000697376.1:c.2316+17dup | ENSP00000513285.1:n.2316+17dup | |
| ENST00000697377.1:c.2154+17dup | ENSP00000513286.1:n.2154+17dup | |
| ENST00000697378.1:n.3721+17dup | ||
| ENST00000697379.1:c.2316+17dup | ENSP00000513287.1:n.2316+17dup | |
| ENST00000697380.1:n.2406-5975dup | ||
| ENST00000697381.1:n.1896+17dup | ||
| ENST00000697382.1:c.2229-5975dup | ENSP00000513288.1:n.2229-5975dup | |
| ENST00000697383.1:c.735+17dup | ENSP00000513289.1:n.735+17dup | |
| ENST00000261584.9:c.3201+17dup MANE Select | ENSP00000261584.4:n.3201+17dup | |
| ENST00000261584.8:c.3201+17dup | ENSP00000261584.4:n.3201+17dup | |
| ENST00000566069.5:c.116+17dup | ||
| ENST00000568219.5:c.2316+17dup | ENSP00000454703.2:n.2316+17dup | |
| NM_024675.3:c.3201+17dup , LRG_308t1:c.3201+17dup | NP_078951.2:n.3201+17dup | |
| XM_011545946.1:c.3207+17dup | XP_011544248.1:n.3207+17dup | |
| XM_011545947.1:c.3207+17dup | XP_011544249.1:n.3207+17dup | |
| XM_011545948.1:c.2316+17dup | XP_011544250.1:n.2316+17dup | |
| XR_950851.1:n.3910-5975dup | ||
| XM_011545946.2:c.3207+17dup | XP_011544248.1:n.3207+17dup | |
| XM_011545947.2:c.3207+17dup | XP_011544249.1:n.3207+17dup | |
| XM_011545948.2:c.2316+17dup | XP_011544250.1:n.2316+17dup | |
| XM_017023671.1:c.3119+7375dup | XP_016879160.1:n.3119+7375dup | |
| XM_017023672.2:c.3113+7375dup | XP_016879161.1:n.3113+7375dup | |
| XM_017023673.2:c.3201+17dup | XP_016879162.1:n.3201+17dup | |
| NM_024675.4:c.3201+17dup MANE Select | NP_078951.2:n.3201+17dup |