Linked Data
gnomAD v4:
17-72123578-C-CCCCAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123580_72123581insCAAACC , CM000679.2:g.72123580_72123581insCAAACC | GRCh38 |
| NC_000017.10:g.70119721_70119722insCAAACC , CM000679.1:g.70119721_70119722insCAAACC | GRCh37 |
| NC_000017.9:g.67631316_67631317insCAAACC | NCBI36 |
| NG_012490.1:g.7561_7562insCAAACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.723_724insCAAACC MANE Select | ENSP00000245479.2:p.Pro241_Lys242insGlnThr | |
| ENST00000245479.2:c.723_724insCAAACC | ENSP00000245479.2:p.Pro241_Lys242insGlnThr | |
| NM_000346.3:c.723_724insCAAACC | NP_000337.1:p.Pro241_Lys242insGlnThr | |
| NM_000346.4:c.723_724insCAAACC MANE Select | NP_000337.1:p.Pro241_Lys242insGlnThr |