Linked Data
dbSNP Id:
rs766871710
ExAC:
22:50307308 TCTC / T
gnomAD v2:
22-50307308-TCTC-T
gnomAD v3:
22-49913660-TCTC-T
gnomAD v4:
22-49913660-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49913665_49913667del , CM000684.2:g.49913665_49913667del | GRCh38 |
| NC_000022.10:g.50307313_50307315del , CM000684.1:g.50307313_50307315del | GRCh37 |
| NC_000022.9:g.48693317_48693319del | NCBI36 |
| NG_008927.1:g.9796_9798del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330817.11:c.103_105del MANE Select | ENSP00000333813.5:p.Glu35del | |
| ENST00000330817.10:c.103_105del | ENSP00000333813.5:p.Glu35del | |
| NM_024105.3:c.103_105del | NP_077010.1:p.Glu35del | |
| XM_011530369.1:c.103_105del | XP_011528671.1:p.Glu35del | |
| XM_011530370.1:c.103_105del | XP_011528672.1:p.Glu35del | |
| XM_011530371.1:c.103_105del | XP_011528673.1:p.Glu35del | |
| XM_011530371.2:c.103_105del | XP_011528673.1:p.Glu35del | |
| XM_017028936.1:c.103_105del | XP_016884425.1:p.Glu35del | |
| XM_017028937.1:c.103_105del | XP_016884426.1:p.Glu35del | |
| NM_024105.4:c.103_105del MANE Select | NP_077010.1:p.Glu35del |