Linked Data
ClinVar Variation Id:
1493464
ClinVar RCV Id:
RCV001984390
dbSNP Id:
rs565100893
gnomAD v3:
5-61332326-G-GGGCGGCGGC
gnomAD v4:
5-61332326-G-GGGCGGCGGC
MyVariant Identifiers:
chr5:g.60628153_60628154insGGCGGCGGC (hg19)
chr5:g.61332326_61332327insGGCGGCGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61332338_61332346dup , CM000667.2:g.61332338_61332346dup | GRCh38 |
| NC_000005.9:g.60628165_60628173dup , CM000667.1:g.60628165_60628173dup | GRCh37 |
| NC_000005.8:g.60663922_60663930dup | NCBI36 |
| NG_053150.1:g.5066_5074dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252744.6:c.66_74dup MANE Select | ENSP00000252744.5:p.Gly25_Gly26insGlyGlyGly | |
| ENST00000252744.5:c.66_74dup | ENSP00000252744.5:p.Gly25_Gly26insGlyGlyGly | |
| NM_020928.1:c.66_74dup | NP_065979.1:p.Gly25_Gly26insGlyGlyGly | |
| NM_020928.2:c.66_74dup MANE Select | NP_065979.1:p.Gly25_Gly26insGlyGlyGly |