Linked Data
dbSNP Id:
rs1376384986
gnomAD v2:
1-12025581-GCTCTC-G
gnomAD v3:
1-11965524-GCTCTC-G
gnomAD v4:
1-11965524-GCTCTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965526_11965530del , CM000663.2:g.11965526_11965530del | GRCh38 |
| NC_000001.10:g.12025583_12025587del , CM000663.1:g.12025583_12025587del | GRCh37 |
| NC_000001.9:g.11948170_11948174del | NCBI36 |
| NG_008159.1:g.35838_35842del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1517_1521del MANE Select | ENSP00000196061.4:p.Leu506ProfsTer? | |
| ENST00000196061.4:c.1517_1521del | ENSP00000196061.4:p.Leu506ProfsTer? | |
| ENST00000470133.1:n.131_135del | ||
| ENST00000491536.5:n.145_149del | ||
| NM_000302.3:c.1517_1521del | NP_000293.2:p.Leu506ProfsTer? | |
| NM_001316320.1:c.1658_1662del | NP_001303249.1:p.Leu553ProfsTer? | |
| XM_011541594.1:c.1598_1602del | XP_011539896.1:p.Leu533ProfsTer? | |
| XM_024447707.1:c.851_855del | XP_024303475.1:p.Leu284ProfsTer? | |
| NM_000302.4:c.1517_1521del MANE Select | NP_000293.2:p.Leu506ProfsTer? | |
| NM_001316320.2:c.1658_1662del | NP_001303249.1:p.Leu553ProfsTer? |