Linked Data
dbSNP Id:
rs1672578358
gnomAD v3:
2-86040284-GACACACTCTCTCATTCACAC-G
gnomAD v4:
2-86040284-GACACACTCTCTCATTCACAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86040289_86040308del , CM000664.2:g.86040289_86040308del | GRCh38 |
| NC_000002.11:g.86267412_86267431del , CM000664.1:g.86267412_86267431del | GRCh37 |
| NC_000002.10:g.86120923_86120942del | NCBI36 |
| NG_050742.2:g.70852_70871del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.3740+88_3740+107del MANE Select | ENSP00000263857.6:n.3740+88_3740+107del | |
| ENST00000263857.10:c.3740+88_3740+107del | ENSP00000263857.6:n.3740+88_3740+107del | |
| ENST00000409681.1:c.3740+88_3740+107del | ENSP00000386300.1:n.3740+88_3740+107del | |
| ENST00000462078.1:n.128+88_129-85del | ||
| NM_015425.3:c.3740+88_3740+107del | NP_056240.2:n.3740+88_3740+107del | |
| XM_006711983.2:c.3416+88_3416+107del | XP_006712046.1:n.3416+88_3416+107del | |
| NM_015425.5:c.3740+88_3740+107del | NP_056240.2:n.3740+88_3740+107del | |
| NM_015425.6:c.3740+88_3740+107del MANE Select | NP_056240.2:n.3740+88_3740+107del |