Linked Data
dbSNP Id:
rs779929344
gnomAD v2:
5-151202542-TG-T
gnomAD v3:
5-151822981-TG-T
gnomAD v4:
5-151822981-TG-T
MyVariant Identifiers:
chr5:g.151202545del (hg19)
chr5:g.151202543del (hg19)
chr5:g.151822984del (hg38)
chr5:g.151822982del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151822985del , CM000667.2:g.151822985del | GRCh38 |
| NC_000005.9:g.151202546del , CM000667.1:g.151202546del | GRCh37 |
| NC_000005.8:g.151182739del | NCBI36 |
| NG_011764.1:g.106855del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.1060-19del MANE Select | ENSP00000274576.5:n.1060-19del | |
| ENST00000274576.8:c.1060-19del | ENSP00000274576.4:n.1060-19del | |
| ENST00000455880.2:c.1065del | ENSP00000411593.2:p.Met356CysfsTer2 | |
| ENST00000462581.6:c.*818-19del | ENSP00000430595.1:n.*818-19del | |
| NM_000171.3:c.1060-19del | NP_000162.2:n.1060-19del | |
| NM_001146040.1:c.1065del | NP_001139512.1:p.Met356CysfsTer2 | |
| NM_001292000.1:c.811-19del | NP_001278929.1:n.811-19del | |
| NM_000171.4:c.1060-19del MANE Select | NP_000162.2:n.1060-19del | |
| NM_001146040.2:c.1065del | NP_001139512.1:p.Met356CysfsTer2 | |
| NM_001292000.2:c.811-19del | NP_001278929.1:n.811-19del |