Linked Data
dbSNP Id:
rs1464306342
MyVariant Identifiers:
chr1:g.193221125_193221126insTA (hg19)
chr1:g.193251995_193251996insTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251995_193251996insTA , CM000663.2:g.193251995_193251996insTA | GRCh38 |
| NC_000001.10:g.193221125_193221126insTA , CM000663.1:g.193221125_193221126insTA | GRCh37 |
| NC_000001.9:g.191487748_191487749insTA | NCBI36 |
| NG_012691.1:g.135038_135039insTA , LRG_507:g.135038_135039insTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*1283_*1284insTA MANE Select | ENSP00000356405.4:n.*1283_*1284insTA | |
| ENST00000635846.1:c.*1283_*1284insTA | ENSP00000490035.1:n.*1283_*1284insTA | |
| ENST00000643006.1:c.*1789_*1790insTA | ENSP00000496633.1:n.*1789_*1790insTA | |
| ENST00000367435.3:c.*1283_*1284insTA | ENSP00000356405.3:n.*1283_*1284insTA | |
| NM_024529.4:c.*1283_*1284insTA , LRG_507t1:c.*1283_*1284insTA | NP_078805.3:n.*1283_*1284insTA | |
| NM_024529.5:c.*1283_*1284insTA MANE Select | NP_078805.3:n.*1283_*1284insTA |