Linked Data
ClinVar Variation Id:
425633
dbSNP Id:
rs1114167407
MyVariant Identifiers:
chr17:g.48276600dup (hg19)
chr17:g.48276599_48276600insG (hg19)
chr17:g.50199239dup (hg38)
chr17:g.50199238_50199239insG (hg38)
PubMed:
PMID:25944380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199243dup , CM000679.2:g.50199243dup | GRCh38 |
| NC_000017.10:g.48276604dup , CM000679.1:g.48276604dup | GRCh37 |
| NC_000017.9:g.45631603dup | NCBI36 |
| NG_007400.1:g.7401dup , LRG_1:g.7401dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.458dup MANE Select | ENSP00000225964.6:p.Gly154TrpfsTer15 | |
| ENST00000225964.9:c.458dup | ENSP00000225964.5:p.Gly154TrpfsTer15 | |
| NM_000088.3:c.458dup , LRG_1t1:c.458dup | NP_000079.2:p.Gly154TrpfsTer15 | |
| XM_005257058.3:c.458dup | XP_005257115.2:p.Gly154TrpfsTer15 | |
| XM_005257059.3:c.458dup | XP_005257116.2:p.Gly154TrpfsTer15 | |
| XM_011524341.1:c.458dup | XP_011522643.1:p.Gly154TrpfsTer15 | |
| XM_005257058.4:c.458dup | XP_005257115.2:p.Gly154TrpfsTer15 | |
| XM_005257059.4:c.458dup | XP_005257116.2:p.Gly154TrpfsTer15 | |
| NM_000088.4:c.458dup MANE Select | NP_000079.2:p.Gly154TrpfsTer15 |