Linked Data
ClinVar Variation Id:
16116
ClinVar RCV Id:
RCV000017496
dbSNP Id:
rs267607060
MyVariant Identifiers:
chr1:g.43396529_43396530delinsAT (hg19)
chr1:g.42930858_42930859delinsAT (hg38)
PubMed:
PMID:18577546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930858_42930859delinsAT , CM000663.2:g.42930858_42930859delinsAT | GRCh38 |
| NC_000001.10:g.43396529_43396530delinsAT , CM000663.1:g.43396529_43396530delinsAT | GRCh37 |
| NC_000001.9:g.43169116_43169117delinsAT | NCBI36 |
| NG_008232.1:g.33318_33319delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426263.10:c.283_284delinsAT MANE Select | ENSP00000416293.2:p.Ser95Ile | |
| ENST00000674765.1:c.283_284delinsAT | ENSP00000501811.1:p.Ser95Ile | |
| ENST00000675112.1:n.306_307delinsAT | ||
| ENST00000676254.1:n.732_733delinsAT | ||
| ENST00000372500.4:c.187_188delinsAT | ENSP00000361578.4:p.Ser63Ile | |
| ENST00000426263.7:c.283_284delinsAT | ENSP00000416293.2:p.Ser95Ile | |
| ENST00000439722.2:c.162_163delinsAT | ENSP00000395521.2:n.162_163delinsAT | |
| ENST00000475162.3:c.182_183delinsAT | ||
| ENST00000625233.2:n.491_492delinsAT | ||
| ENST00000630287.2:c.283_284delinsAT | ENSP00000486694.1:p.Ser95Ile | |
| NM_006516.2:c.283_284delinsAT | NP_006507.2:p.Ser95Ile | |
| NM_006516.3:c.283_284delinsAT | NP_006507.2:p.Ser95Ile | |
| NM_006516.4:c.283_284delinsAT MANE Select | NP_006507.2:p.Ser95Ile |