Linked Data
gnomAD v4:
12-14978159-TGAAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14978165_14978169del , CM000674.2:g.14978165_14978169del | GRCh38 |
| NC_000012.11:g.15131099_15131103del , CM000674.1:g.15131099_15131103del | GRCh37 |
| NC_000012.10:g.15022366_15022370del | NCBI36 |
| NG_016859.1:g.10144_10148del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.134+19_134+23del MANE Select | ENSP00000266395.2:n.134+19_134+23del | |
| ENST00000266395.2:c.134+19_134+23del | ENSP00000266395.2:n.134+19_134+23del | |
| NM_006205.2:c.134+19_134+23del | NP_006196.1:n.134+19_134+23del | |
| XR_931376.1:n.175+11323_175+11327del | ||
| XM_017019431.2:c.134+19_134+23del | XP_016874920.1:n.134+19_134+23del | |
| XR_931376.2:n.389+11323_389+11327del | ||
| NM_006205.3:c.134+19_134+23del MANE Select | NP_006196.1:n.134+19_134+23del |