Linked Data
dbSNP Id:
rs1567867135
gnomAD v2:
17-76219854-C-CT
gnomAD v3:
17-78223773-C-CT
gnomAD v4:
17-78223773-C-CT
MyVariant Identifiers:
chr17:g.76219854_76219855insT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223775dup , CM000679.2:g.78223775dup | GRCh38 |
| NC_000017.10:g.76219856dup , CM000679.1:g.76219856dup | GRCh37 |
| NC_000017.9:g.73731451dup | NCBI36 |
| NG_029069.1:g.14580dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.*221dup MANE Select | ENSP00000324180.4:n.*221dup | |
| ENST00000301633.8:c.*221dup | ENSP00000301633.3:n.*221dup | |
| ENST00000350051.7:c.*221dup | ENSP00000324180.4:n.*221dup | |
| ENST00000374948.6:c.*118dup | ENSP00000364086.1:n.*118dup | |
| ENST00000589892.1:n.666dup | ||
| NM_001012270.1:c.*118dup | NP_001012270.1:n.*118dup | |
| NM_001012271.1:c.*221dup | NP_001012271.1:n.*221dup | |
| NM_001168.2:c.*221dup | NP_001159.2:n.*221dup | |
| XR_243654.3:n.852dup | ||
| XR_934452.1:n.921dup | ||
| XR_243654.5:n.852dup | ||
| XR_934452.3:n.921dup | ||
| NM_001168.3:c.*221dup MANE Select | NP_001159.2:n.*221dup | |
| NM_001012270.2:c.*118dup | NP_001012270.1:n.*118dup | |
| NM_001012271.2:c.*221dup | NP_001012271.1:n.*221dup |