Linked Data
gnomAD v4:
10-133538895-CAGCCCTATACATA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133538896_133538908del , CM000672.2:g.133538896_133538908del | GRCh38 |
| NC_000010.10:g.135352400_135352412del , CM000672.1:g.135352400_135352412del | GRCh37 |
| NC_000010.9:g.135202390_135202402del | NCBI36 |
| NG_008383.1:g.16534_16546del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1414_1426del MANE Select | ENSP00000252945.3:p.Ser472LeufsTer? | |
| ENST00000252945.7:c.1414_1426del | ENSP00000252945.3:p.Ser472LeufsTer? | |
| ENST00000368520.1:n.1358+1004_1358+1016del | ||
| ENST00000463117.6:c.1414_1426del | ENSP00000440689.1:p.Ser472LeufsTer? | |
| ENST00000469258.1:n.510_522del | ||
| NM_000773.3:c.1414_1426del | NP_000764.1:p.Ser472LeufsTer? | |
| NM_000773.4:c.1414_1426del MANE Select | NP_000764.1:p.Ser472LeufsTer? |