Linked Data
dbSNP Id:
rs587777747
ExAC:
9:80915562 TG / T
gnomAD v2:
9-80915562-TG-T
gnomAD v3:
9-78300646-TG-T
gnomAD v4:
9-78300646-TG-T
MyVariant Identifiers:
chr9:g.80915564del (hg19)
chr9:g.80915563del (hg19)
chr9:g.78300648del (hg38)
chr9:g.78300647del (hg38)
PubMed:
PMID:17436247
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78300648del , CM000671.2:g.78300648del | GRCh38 |
| NC_000009.11:g.80915564del , CM000671.1:g.80915564del | GRCh37 |
| NC_000009.10:g.80105384del | NCBI36 |
| NG_012165.1:g.8506del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376588.4:c.107del MANE Select | ENSP00000365773.3:p.Gly36AlafsTer7 | |
| ENST00000347159.6:c.107del | ENSP00000317606.2:p.Gly36AlafsTer7 | |
| ENST00000376588.3:c.107del | ENSP00000365773.3:p.Gly36AlafsTer7 | |
| NM_021154.4:c.107del | NP_066977.1:p.Gly36AlafsTer7 | |
| NM_058179.3:c.107del | NP_478059.1:p.Gly36AlafsTer7 | |
| NM_058179.4:c.107del MANE Select | NP_478059.1:p.Gly36AlafsTer7 | |
| NM_021154.5:c.107del | NP_066977.1:p.Gly36AlafsTer7 |