Linked Data
dbSNP Id:
rs1553157355
gnomAD v2:
1-65298774-GTGTT-G
gnomAD v3:
1-64833091-GTGTT-G
gnomAD v4:
1-64833091-GTGTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833104_64833107del , CM000663.2:g.64833104_64833107del | GRCh38 |
| NC_000001.10:g.65298787_65298790del , CM000663.1:g.65298787_65298790del | GRCh37 |
| NC_000001.9:g.65071375_65071378del | NCBI36 |
| NG_023402.1:g.138410_138413del | |
| NG_023402.2:g.239652_239655del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2119_*2122del MANE Select | ENSP00000294428.3:n.*2119_*2122del | |
| ENST00000294428.7:c.*2119_*2122del | ENSP00000294428.3:n.*2119_*2122del | |
| ENST00000371072.8:c.*2119_*2122del | ENSP00000360112.4:n.*2119_*2122del | |
| NM_018211.3:c.*2119_*2122del | NP_060681.2:n.*2119_*2122del | |
| XM_006710738.2:c.*2119_*2122del | XP_006710801.2:n.*2119_*2122del | |
| NM_001366165.1:c.*2119_*2122del | NP_001353094.1:n.*2119_*2122del | |
| XR_946693.3:n.4538_4541del | ||
| NM_018211.4:c.*2119_*2122del | NP_060681.2:n.*2119_*2122del | |
| NM_001366165.2:c.*2119_*2122del MANE Select | NP_001353094.1:n.*2119_*2122del |