Linked Data
ClinVar Variation Id:
56028
dbSNP Id:
rs386833508
gnomAD v3:
5-149980295-AGCGATGG-A
gnomAD v4:
5-149980295-AGCGATGG-A
MyVariant Identifiers:
chr5:g.149359861_149359867del (hg19)
chr5:g.149359859_149359865del (hg19)
chr5:g.149980298_149980304del (hg38)
chr5:g.149980296_149980302del (hg38)
PubMed:
PMID:11241838
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980298_149980304del , CM000667.2:g.149980298_149980304del | GRCh38 |
| NC_000005.9:g.149359861_149359867del , CM000667.1:g.149359861_149359867del | GRCh37 |
| NC_000005.8:g.149340054_149340060del | NCBI36 |
| NG_007147.2:g.21416_21422del , LRG_684:g.21416_21422del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.705_711del MANE Select | ENSP00000286298.4:p.Met236SerfsTer16 | |
| ENST00000286298.4:c.705_711del | ENSP00000286298.4:p.Met236SerfsTer16 | |
| ENST00000503336.1:c.372+1947_372+1953del | ENSP00000426053.1:n.372+1947_372+1953del | |
| NM_000112.3:c.705_711del , LRG_684t1:c.705_711del | NP_000103.2:p.Met236SerfsTer16 | |
| XM_017009191.2:c.705_711del | XP_016864680.1:p.Met236SerfsTer16 | |
| NM_000112.4:c.705_711del MANE Select | NP_000103.2:p.Met236SerfsTer16 |