Linked Data
gnomAD v3:
1-162199595-C-CGTGTGTGTGTGTGTGTGT
gnomAD v4:
1-162199595-C-CGTGTGTGTGTGTGTGTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162199624_162199641dup , CM000663.2:g.162199624_162199641dup | GRCh38 |
| NC_000001.10:g.162169414_162169431dup , CM000663.1:g.162169414_162169431dup | GRCh37 |
| NC_000001.9:g.160436038_160436055dup | NCBI36 |
| NG_015979.1:g.134834_134851dup | |
| NG_015979.2:g.134834_134851dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361897.10:c.177+45148_177+45165dup MANE Select | ENSP00000355133.5:n.177+45148_177+45165dup | |
| ENST00000361897.9:c.177+45148_177+45165dup | ENSP00000355133.5:n.177+45148_177+45165dup | |
| ENST00000430120.3:c.177+45148_177+45165dup | ENSP00000396713.3:n.177+45148_177+45165dup | |
| ENST00000530878.5:c.177+45148_177+45165dup | ENSP00000431586.1:n.177+45148_177+45165dup | |
| NM_001164757.1:c.177+45148_177+45165dup | NP_001158229.1:n.177+45148_177+45165dup | |
| NM_014697.2:c.177+45148_177+45165dup | NP_055512.1:n.177+45148_177+45165dup | |
| NM_014697.3:c.177+45148_177+45165dup MANE Select | NP_055512.1:n.177+45148_177+45165dup | |
| NM_001164757.2:c.177+45148_177+45165dup | NP_001158229.1:n.177+45148_177+45165dup |