Linked Data
ClinVar Variation Id:
3629
dbSNP Id:
rs536522394
gnomAD v2:
17-56350827-GGGGTTGGGTTCCAT-G
gnomAD v3:
17-58273466-GGGGTTGGGTTCCAT-G
gnomAD v4:
17-58273466-GGGGTTGGGTTCCAT-G
MyVariant Identifiers:
chr17:g.56350828_56350841del (hg19)
chr17:g.58273468_58273481del (hg38)
chr17:g.58273467_58273480del (hg38)
PubMed:
PMID:9354683
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273470_58273483del , CM000679.2:g.58273470_58273483del | GRCh38 |
| NC_000017.10:g.56350831_56350844del , CM000679.1:g.56350831_56350844del | GRCh37 |
| NC_000017.9:g.53705830_53705843del | NCBI36 |
| NG_009629.1:g.12456_12469del , LRG_84:g.12456_12469del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000578493.2:n.888_901del | ||
| ENST00000699291.1:c.680_693del | ENSP00000514272.1:n.680_693del | |
| ENST00000699292.1:n.595_608del | ||
| ENST00000225275.4:c.1555_1568del MANE Select | ENSP00000225275.3:p.Met519ProfsTer21 | |
| ENST00000225275.3:c.1555_1568del | ENSP00000225275.3:p.Met519ProfsTer21 | |
| ENST00000577220.1:c.13_26del | ENSP00000464668.1:p.Met5ProfsTer21 | |
| NM_000250.1:c.1555_1568del , LRG_84t1:c.1555_1568del | NP_000241.1:p.Met519ProfsTer21 | |
| XM_011524821.1:c.1741_1754del | XP_011523123.1:p.Met581ProfsTer21 | |
| XM_011524822.1:c.1270_1283del | XP_011523124.1:p.Met424ProfsTer21 | |
| XM_011524823.1:c.*104_*117del | XP_011523125.1:n.*104_*117del | |
| NM_000250.2:c.1555_1568del MANE Select | NP_000241.1:p.Met519ProfsTer21 |