Linked Data
ClinVar Variation Id:
205603
ClinVar RCV Id:
RCV000187588
dbSNP Id:
rs796052533
MyVariant Identifiers:
chr19:g.1401321_1401322delinsAA (hg19)
chr19:g.1401322_1401323delinsAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401322_1401323delinsAA , CM000681.2:g.1401322_1401323delinsAA | GRCh38 |
| NC_000019.9:g.1401321_1401322delinsAA , CM000681.1:g.1401321_1401322delinsAA | GRCh37 |
| NC_000019.8:g.1352321_1352322delinsAA | NCBI36 |
| NG_009785.1:g.5231_5232delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.154_155delinsTT MANE Select | ENSP00000252288.1:p.Ala52Leu | |
| ENST00000447102.8:c.154_155delinsTT | ENSP00000403536.2:p.Ala52Leu | |
| ENST00000640762.1:c.112+42_112+43delinsTT | ENSP00000492031.1:n.112+42_112+43delinsTT | |
| ENST00000252288.6:c.154_155delinsTT | ENSP00000252288.1:p.Ala52Leu | |
| ENST00000447102.7:c.154_155delinsTT | ENSP00000403536.2:p.Ala52Leu | |
| NM_000156.5:c.154_155delinsTT | NP_000147.1:p.Ala52Leu | |
| NM_138924.2:c.154_155delinsTT | NP_620279.1:p.Ala52Leu | |
| NM_000156.6:c.154_155delinsTT MANE Select | NP_000147.1:p.Ala52Leu | |
| NM_138924.3:c.154_155delinsTT | NP_620279.1:p.Ala52Leu |