ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878767_240878768del , CM000664.2:g.240878767_240878768del | GRCh38 |
| NC_000002.11:g.241818184_241818185del , CM000664.1:g.241818184_241818185del | GRCh37 |
| NC_000002.10:g.241466857_241466858del | NCBI36 |
| NG_008005.1:g.15023_15024del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1125_1126del MANE Select | ENSP00000302620.3:p.Val376AspfsTer? | |
| ENST00000307503.3:c.1125_1126del | ENSP00000302620.3:p.Val376AspfsTer? | |
| ENST00000470255.1:n.903_904del | ||
| NM_000030.2:c.1125_1126del | NP_000021.1:p.Val376AspfsTer? | |
| NM_000030.3:c.1125_1126del MANE Select | NP_000021.1:p.Val376AspfsTer? |