Linked Data
dbSNP Id:
rs1563367631
gnomAD v2:
8-65537045-C-CACTCCA
gnomAD v4:
8-64624488-C-CACTCCA
MyVariant Identifiers:
chr8:g.65537045_65537046insACTCCA (hg19)
chr8:g.64624488_64624489insACTCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64624490_64624495dup , CM000670.2:g.64624490_64624495dup | GRCh38 |
| NC_000008.10:g.65537047_65537052dup , CM000670.1:g.65537047_65537052dup | GRCh37 |
| NC_000008.9:g.65699601_65699606dup | NCBI36 |
| NG_008338.1:g.179298_179303dup | |
| NG_008338.2:g.179298_179303dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.168_173dup MANE Select | ENSP00000310721.3:p.Val58_Val59insGlyVal | |
| ENST00000310193.3:c.168_173dup | ENSP00000310721.3:p.Val58_Val59insGlyVal | |
| NM_004820.3:c.168_173dup | NP_004811.1:p.Val58_Val59insGlyVal | |
| NM_001324112.1:c.168_173dup | NP_001311041.1:p.Val58_Val59insGlyVal | |
| NM_004820.4:c.168_173dup | NP_004811.1:p.Val58_Val59insGlyVal | |
| XM_017014002.1:c.234_239dup | XP_016869491.1:p.Val80_Val81insGlyVal | |
| NM_004820.5:c.168_173dup MANE Select | NP_004811.1:p.Val58_Val59insGlyVal | |
| NM_001324112.2:c.168_173dup | NP_001311041.1:p.Val58_Val59insGlyVal |