Linked Data
gnomAD v2:
12-5154822-CG-C
gnomAD v4:
12-5045656-CG-C
MyVariant Identifiers:
chr12:g.5154823del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045660del , CM000674.2:g.5045660del | GRCh38 |
| NC_000012.11:g.5154826del , CM000674.1:g.5154826del | GRCh37 |
| NC_000012.10:g.5025087del | NCBI36 |
| NG_012198.1:g.6742del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1513del MANE Select | ENSP00000252321.3:p.Val505SerfsTer? | |
| ENST00000252321.4:c.1513del | ENSP00000252321.3:p.Val505SerfsTer? | |
| NM_002234.3:c.1513del | NP_002225.2:p.Val505SerfsTer? | |
| NM_002234.4:c.1513del MANE Select | NP_002225.2:p.Val505SerfsTer? |