Linked Data
gnomAD v4:
17-66228125-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228126_66228127del , CM000679.2:g.66228126_66228127del | GRCh38 |
| NC_000017.10:g.64224244_64224245del , CM000679.1:g.64224244_64224245del | GRCh37 |
| NC_000017.9:g.61654706_61654707del | NCBI36 |
| NG_012045.1:g.6312_6313del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.134_135del MANE Select | ENSP00000205948.6:p.Glu45GlyfsTer? | |
| ENST00000205948.10:c.134_135del | ENSP00000205948.6:p.Glu45GlyfsTer? | |
| ENST00000577982.1:c.134_135del | ENSP00000464301.1:p.Glu45GlyfsTer? | |
| ENST00000581797.5:c.-47_-46del | ENSP00000463553.1:n.-47_-46del | |
| NM_000042.2:c.134_135del | NP_000033.2:p.Glu45GlyfsTer? | |
| NM_000042.3:c.134_135del MANE Select | NP_000033.2:p.Glu45GlyfsTer? |