Linked Data
dbSNP Id:
rs1293229218
gnomAD v2:
1-65298787-TGTTA-T
gnomAD v3:
1-64833104-TGTTA-T
gnomAD v4:
1-64833104-TGTTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833107_64833110del , CM000663.2:g.64833107_64833110del | GRCh38 |
| NC_000001.10:g.65298790_65298793del , CM000663.1:g.65298790_65298793del | GRCh37 |
| NC_000001.9:g.65071378_65071381del | NCBI36 |
| NG_023402.1:g.138397_138400del | |
| NG_023402.2:g.239639_239642del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2122_*2125del MANE Select | ENSP00000294428.3:n.*2122_*2125del | |
| ENST00000294428.7:c.*2122_*2125del | ENSP00000294428.3:n.*2122_*2125del | |
| ENST00000371072.8:c.*2122_*2125del | ENSP00000360112.4:n.*2122_*2125del | |
| NM_018211.3:c.*2122_*2125del | NP_060681.2:n.*2122_*2125del | |
| XM_006710738.2:c.*2122_*2125del | XP_006710801.2:n.*2122_*2125del | |
| NM_001366165.1:c.*2122_*2125del | NP_001353094.1:n.*2122_*2125del | |
| XR_946693.3:n.4541_4544del | ||
| NM_018211.4:c.*2122_*2125del | NP_060681.2:n.*2122_*2125del | |
| NM_001366165.2:c.*2122_*2125del MANE Select | NP_001353094.1:n.*2122_*2125del |