Linked Data
dbSNP Id:
rs2030837346
gnomAD v3:
16-17138333-G-GCAGACCATGA
gnomAD v4:
16-17138333-G-GCAGACCATGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138334_17138343dup , CM000678.2:g.17138334_17138343dup | GRCh38 |
| NC_000016.9:g.17232191_17232200dup , CM000678.1:g.17232191_17232200dup | GRCh37 |
| NC_000016.8:g.17139692_17139701dup | NCBI36 |
| NG_015843.1:g.337539_337548dup | |
| NG_015843.2:g.337539_337548dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1764+12_1764+21dup MANE Select | ENSP00000261381.6:n.1764+12_1764+21dup | |
| ENST00000261381.6:c.1764+12_1764+21dup | ENSP00000261381.6:n.1764+12_1764+21dup | |
| NM_022166.3:c.1764+12_1764+21dup | NP_071449.1:n.1764+12_1764+21dup | |
| XM_011522574.1:c.1764+12_1764+21dup | XP_011520876.1:n.1764+12_1764+21dup | |
| XR_933140.1:n.428_437dup | ||
| XR_933141.1:n.267_276dup | ||
| XR_933143.1:n.329_338dup | ||
| NR_135179.1:n.239_248dup | ||
| XM_017023539.2:c.1764+12_1764+21dup | XP_016879028.1:n.1764+12_1764+21dup | |
| XM_017023540.2:c.1764+12_1764+21dup | XP_016879029.1:n.1764+12_1764+21dup | |
| NM_022166.4:c.1764+12_1764+21dup MANE Select | NP_071449.1:n.1764+12_1764+21dup |