Linked Data
dbSNP Id:
rs1307916408
gnomAD v2:
1-65298825-CCAAAA-C
gnomAD v3:
1-64833142-CCAAAA-C
gnomAD v4:
1-64833142-CCAAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833144_64833148del , CM000663.2:g.64833144_64833148del | GRCh38 |
| NC_000001.10:g.65298827_65298831del , CM000663.1:g.65298827_65298831del | GRCh37 |
| NC_000001.9:g.65071415_65071419del | NCBI36 |
| NG_023402.1:g.138358_138362del | |
| NG_023402.2:g.239600_239604del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2159_*2163del MANE Select | ENSP00000294428.3:n.*2159_*2163del | |
| ENST00000294428.7:c.*2159_*2163del | ENSP00000294428.3:n.*2159_*2163del | |
| ENST00000371072.8:c.*2159_*2163del | ENSP00000360112.4:n.*2159_*2163del | |
| NM_018211.3:c.*2159_*2163del | NP_060681.2:n.*2159_*2163del | |
| XM_006710738.2:c.*2159_*2163del | XP_006710801.2:n.*2159_*2163del | |
| NM_001366165.1:c.*2159_*2163del | NP_001353094.1:n.*2159_*2163del | |
| XR_946693.3:n.4578_4582del | ||
| NM_018211.4:c.*2159_*2163del | NP_060681.2:n.*2159_*2163del | |
| NM_001366165.2:c.*2159_*2163del MANE Select | NP_001353094.1:n.*2159_*2163del |