Linked Data
ClinVar Variation Id:
665170
dbSNP Id:
rs1398588555
gnomAD v2:
5-54529083-A-ACGGGCTGGGC
gnomAD v4:
5-55233255-A-ACGGGCTGGGC
MyVariant Identifiers:
chr5:g.54529083_54529084insCGGGCTGGGC (hg19)
chr5:g.55233255_55233256insCGGGCTGGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233261_55233270dup , CM000667.2:g.55233261_55233270dup | GRCh38 |
| NC_000005.9:g.54529089_54529098dup , CM000667.1:g.54529089_54529098dup | GRCh37 |
| NC_000005.8:g.54564846_54564855dup | NCBI36 |
| NG_034201.1:g.5453_5462dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.259_268dup MANE Select | ENSP00000282572.4:p.Val90GlyfsTer? | |
| ENST00000282572.4:c.259_268dup | ENSP00000282572.4:p.Val90GlyfsTer? | |
| ENST00000501463.2:c.259_268dup | ENSP00000422485.1:p.Val90GlyfsTer? | |
| NM_021147.4:c.259_268dup | NP_066970.3:p.Val90GlyfsTer? | |
| NR_125346.1:n.453_462dup | ||
| NR_125347.1:n.453_462dup | ||
| NM_021147.5:c.259_268dup MANE Select | NP_066970.3:p.Val90GlyfsTer? | |
| NR_125346.2:n.344_353dup | ||
| NR_125347.2:n.344_353dup |