Linked Data
dbSNP Id:
rs797044820
MyVariant Identifiers:
chr19:g.7589978_7590012delinsTCA (hg19)
chr19:g.7525092_7525126delinsTCA (hg38)
PubMed:
PMID:20301393
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525092_7525126delinsTCA , CM000681.2:g.7525092_7525126delinsTCA | GRCh38 |
| NC_000019.9:g.7589978_7590012delinsTCA , CM000681.1:g.7589978_7590012delinsTCA | GRCh37 |
| NC_000019.8:g.7495978_7496012delinsTCA | NCBI36 |
| NG_015806.1:g.7483_7517delinsTCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.163_197delinsTCA MANE Select | ENSP00000264079.5:p.Lys55SerfsTer22 | |
| ENST00000264079.10:c.163_197delinsTCA | ENSP00000264079.5:p.Lys55SerfsTer22 | |
| ENST00000394321.9:n.243_277delinsTCA | ||
| ENST00000596390.1:n.279_313delinsTCA | ||
| ENST00000601003.1:c.163_197delinsTCA | ENSP00000469074.1:p.Lys55SerfsTer22 | |
| NM_020533.2:c.163_197delinsTCA | NP_065394.1:p.Lys55SerfsTer22 | |
| NM_020533.3:c.163_197delinsTCA MANE Select | NP_065394.1:p.Lys55SerfsTer22 |