Linked Data
ClinVar Variation Id:
364026
ClinVar RCV Id:
RCV000308068
dbSNP Id:
rs886063199
gnomAD v3:
8-96144242-A-AAAAG
gnomAD v4:
8-96144242-A-AAAAG
MyVariant Identifiers:
chr8:g.97156470_97156471insAAAG (hg19)
chr8:g.96144242_96144243insAAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144243_96144244insAAGA , CM000670.2:g.96144243_96144244insAAGA | GRCh38 |
| NC_000008.10:g.97156471_97156472insAAGA , CM000670.1:g.97156471_97156472insAAGA | GRCh37 |
| NC_000008.9:g.97225647_97225648insAAGA | NCBI36 |
| NG_008981.1:g.21550_21551insCTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.*320_*321insCTTT MANE Select | ENSP00000287020.4:n.*320_*321insCTTT | |
| ENST00000287020.6:c.*320_*321insCTTT | ENSP00000287020.4:n.*320_*321insCTTT | |
| NM_001001557.2:c.*320_*321insCTTT | NP_001001557.1:n.*320_*321insCTTT | |
| XM_011517030.1:c.*320_*321insCTTT | XP_011515332.1:n.*320_*321insCTTT | |
| NM_001001557.3:c.*320_*321insCTTT | NP_001001557.1:n.*320_*321insCTTT | |
| NM_001001557.4:c.*320_*321insCTTT MANE Select | NP_001001557.1:n.*320_*321insCTTT |