Linked Data
gnomAD v4:
12-21176859-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176860del , CM000674.2:g.21176860del | GRCh38 |
| NC_000012.11:g.21329794del , CM000674.1:g.21329794del | GRCh37 |
| NC_000012.10:g.21221061del | NCBI36 |
| NG_011745.1:g.50667del , LRG_1022:g.50667del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.444del MANE Select | ENSP00000256958.2:p.Leu148PhefsTer10 | |
| ENST00000256958.2:c.444del | ENSP00000256958.2:p.Leu148PhefsTer10 | |
| ENST00000543498.5:c.510del | ||
| NM_006446.4:c.444del , LRG_1022t1:c.444del | NP_006437.3:p.Leu148PhefsTer10 | |
| NM_006446.5:c.444del MANE Select | NP_006437.3:p.Leu148PhefsTer10 |