Linked Data
ClinVar Variation Id:
435465
dbSNP Id:
rs1220869113
gnomAD v4:
10-102067185-T-TAG
MyVariant Identifiers:
chr10:g.103826942_103826943insAG (hg19)
chr10:g.102067185_102067186insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102067185_102067186insAG , CM000672.2:g.102067185_102067186insAG | GRCh38 |
| NC_000010.10:g.103826942_103826943insAG , CM000672.1:g.103826942_103826943insAG | GRCh37 |
| NC_000010.9:g.103816932_103816933insAG | NCBI36 |
| NG_012029.1:g.6796_6797insAG , LRG_564:g.6796_6797insAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299238.7:c.1711_1712insAG MANE Select | ENSP00000299238.5:p.Cys571Ter | |
| ENST00000299238.6:c.1711_1712insAG | ENSP00000299238.5:p.Cys571Ter | |
| NM_024747.5:c.1711_1712insAG , LRG_564t1:c.1711_1712insAG | NP_079023.2:p.Cys571Ter | |
| NM_024747.6:c.1711_1712insAG MANE Select | NP_079023.2:p.Cys571Ter |