Linked Data
dbSNP Id:
rs748402895
ExAC:
10:69991076 TGGTCGC / T
gnomAD v2:
10-69991076-TGGTCGC-T
gnomAD v4:
10-68231319-TGGTCGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231322_68231327del , CM000672.2:g.68231322_68231327del | GRCh38 |
| NC_000010.10:g.69991079_69991084del , CM000672.1:g.69991079_69991084del | GRCh37 |
| NC_000010.9:g.69661085_69661090del | NCBI36 |
| NG_031934.1:g.5789_5794del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.353_358del MANE Select | ENSP00000362777.3:p.Arg118_Asp119del | |
| ENST00000373673.4:c.353_358del | ENSP00000362777.3:p.Arg118_Asp119del | |
| NM_145178.3:c.353_358del | NP_660161.1:p.Arg118_Asp119del | |
| NM_145178.4:c.353_358del MANE Select | NP_660161.1:p.Arg118_Asp119del |