ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60648793_60648795del , CM000676.2:g.60648793_60648795del | GRCh38 |
| NC_000014.8:g.61115511_61115513del , CM000676.1:g.61115511_61115513del | GRCh37 |
| NC_000014.7:g.60185264_60185266del | NCBI36 |
| NG_008231.1:g.5645_5647del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.397_399del MANE Select | ENSP00000494686.1:p.Glu133del | |
| ENST00000247182.6:c.397_399del | ENSP00000247182.5:p.Glu133del | |
| ENST00000553535.2:n.249-2216_249-2214del | ||
| ENST00000554986.2:c.42-2216_42-2214del | ENSP00000452700.2:n.42-2216_42-2214del | |
| ENST00000555955.3:n.1198-2216_1198-2214del | ||
| NM_005982.3:c.397_399del | NP_005973.1:p.Glu133del | |
| XM_017021602.2:c.397_399del | XP_016877091.1:p.Glu133del | |
| NM_005982.4:c.397_399del MANE Select | NP_005973.1:p.Glu133del |