Linked Data
dbSNP Id:
rs2038641030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100882982_100882984dup , CM000676.2:g.100882982_100882984dup | GRCh38 |
| NC_000014.8:g.101349319_101349321dup , CM000676.1:g.101349319_101349321dup | GRCh37 |
| NC_000014.7:g.100419072_100419074dup | NCBI36 |
| NG_045001.1:g.6865_6867dup | |
| NG_045000.5:g.51714_51716dup | |
| NG_045000.6:g.51714_51716dup | |
| NG_045001.2:g.25740_25742dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1806_1808dup (RTL1) MANE Select | ENSP00000497482.1:p.His603_Ser604insHis | |
| ENST00000534062.1:c.1806_1808dup (RTL1) | ENSP00000435342.1:p.His603_Ser604insHis | |
| NM_001134888.2:c.1806_1808dup (RTL1) | NP_001128360.1:p.His603_Ser604insHis | |
| NR_029696.1:n.4_6dup (MIR127) | ||
| NM_001134888.3:c.1806_1808dup (RTL1) MANE Select | NP_001128360.1:p.His603_Ser604insHis |