Linked Data
dbSNP Id:
rs1197136049
gnomAD v2:
17-15932843-CT-C
gnomAD v3:
17-16029529-CT-C
gnomAD v4:
17-16029529-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16029533del , CM000679.2:g.16029533del | GRCh38 |
| NC_000017.10:g.15932847del , CM000679.1:g.15932847del | GRCh37 |
| NC_000017.9:g.15873572del | NCBI36 |
| NG_029806.1:g.35154del | |
| NG_047111.1:g.192217del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436068.2:c.*2766del (NCOR1) | ENSP00000389839.2:n.*2766del | |
| ENST00000704743.1:n.9037del (NCOR1) | ||
| ENST00000704744.1:c.*2766del (NCOR1) | ENSP00000516021.1:n.*2766del | |
| ENST00000704745.1:c.*2766del (NCOR1) | ENSP00000516022.1:n.*2766del | |
| ENST00000268712.8:c.*2766del (NCOR1) MANE Select | ENSP00000268712.2:n.*2766del | |
| ENST00000268712.7:c.*2766del (NCOR1) | ENSP00000268712.2:n.*2766del | |
| ENST00000470649.1:c.247+2831del (TTC19) | ENSP00000465627.1:n.247+2831del | |
| XM_017024801.2:c.994+2831del (TTC19) | XP_016880290.2:n.994+2831del | |
| XM_017024802.2:c.994+2831del (TTC19) | XP_016880291.2:n.994+2831del | |
| NM_006311.4:c.*2766del (NCOR1) MANE Select | NP_006302.2:n.*2766del |