Linked Data
dbSNP Id:
rs753689088
ExAC:
6:35773704 TCTC / T
gnomAD v2:
6-35773704-TCTC-T
gnomAD v4:
6-35805927-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35805932_35805934del , CM000668.2:g.35805932_35805934del | GRCh38 |
| NC_000006.11:g.35773709_35773711del , CM000668.1:g.35773709_35773711del | GRCh37 |
| NC_000006.10:g.35881687_35881689del | NCBI36 |
| NG_012184.1:g.5639_5641del | |
| NG_012184.2:g.5639_5641del | |
| NG_012184.3:g.13727_13729del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.262_264del MANE Select | ENSP00000353346.1:p.Ser88del | |
| ENST00000651132.1:c.262_264del | ENSP00000498322.1:p.Ser88del | |
| ENST00000651676.1:c.262_264del | ENSP00000498699.1:p.Ser88del | |
| ENST00000651994.1:c.262_264del | ENSP00000498310.1:p.Ser88del | |
| ENST00000652718.1:c.94_96del | ENSP00000498866.1:p.Ser32del | |
| ENST00000360215.2:c.262_264del | ENSP00000353346.1:p.Ser88del | |
| NM_182548.3:c.262_264del | NP_872354.1:p.Ser88del | |
| XM_011514403.1:c.262_264del | XP_011512705.1:p.Ser88del | |
| NM_182548.4:c.262_264del MANE Select | NP_872354.1:p.Ser88del |