Linked Data
dbSNP Id:
rs569983308
ExAC:
4:135121893 TCTC / T
gnomAD v2:
4-135121893-TCTC-T
gnomAD v3:
4-134200738-TCTC-T
gnomAD v4:
4-134200738-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134200742_134200744del , CM000666.2:g.134200742_134200744del | GRCh38 |
| NC_000004.11:g.135121897_135121899del , CM000666.1:g.135121897_135121899del | GRCh37 |
| NC_000004.10:g.135341347_135341349del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421491.4:c.279_281del MANE Select | ENSP00000463233.1:p.Arg94del | |
| ENST00000421491.3:c.279_281del | ENSP00000463233.1:p.Arg94del | |
| NM_001114734.1:c.453_455del | NP_001108206.2:p.Arg152del | |
| NM_001114734.2:c.279_281del MANE Select | NP_001108206.3:p.Arg94del | |
| NM_001363585.1:c.279_281del | NP_001350514.1:p.Arg94del | |
| XR_001741133.1:n.818_820del | ||
| XR_001741134.1:n.818_820del | ||
| XR_001741135.1:n.818_820del | ||
| XR_001741136.1:n.818_820del | ||
| XR_001741137.1:n.818_820del | ||
| XR_001741138.1:n.818_820del | ||
| XR_001741139.1:n.813_815del |