Linked Data
ClinVar Variation Id:
572097
ClinVar RCV Id:
RCV000693405
dbSNP Id:
rs1563575697
MyVariant Identifiers:
chr8:g.118849414_118849415insGA (hg19)
chr8:g.117837175_117837176insGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837175_117837176insGA , CM000670.2:g.117837175_117837176insGA | GRCh38 |
| NC_000008.10:g.118849414_118849415insGA , CM000670.1:g.118849414_118849415insGA | GRCh37 |
| NC_000008.9:g.118918595_118918596insGA | NCBI36 |
| NG_007455.2:g.279644_279645insTC , LRG_493:g.279644_279645insTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.455_456insTC | ||
| ENST00000378204.7:c.988_989insTC MANE Select | ENSP00000367446.3:p.Asn330IlefsTer30 | |
| ENST00000436216.2:c.356_357insTC | ||
| ENST00000378204.6:c.988_989insTC | ENSP00000367446.2:p.Asn330IlefsTer30 | |
| ENST00000436216.1:c.356_357insTC | ||
| ENST00000437196.1:c.74-1625_74-1624insTC | ENSP00000407299.1:n.74-1625_74-1624insTC | |
| NM_000127.2:c.988_989insTC , LRG_493t1:c.988_989insTC | NP_000118.2:p.Asn330IlefsTer30 | |
| NM_000127.3:c.988_989insTC MANE Select | NP_000118.2:p.Asn330IlefsTer30 |