Linked Data
ClinVar Variation Id:
102913
dbSNP Id:
rs199475618
ExAC:
12:103240672 CTGT / C
gnomAD v2:
12-103240672-CTGT-C
gnomAD v3:
12-102846894-CTGT-C
gnomAD v4:
12-102846894-CTGT-C
ERepo:
CA229876/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846895_102846897del , CM000674.2:g.102846895_102846897del | GRCh38 |
| NC_000012.11:g.103240673_103240675del , CM000674.1:g.103240673_103240675del | GRCh37 |
| NC_000012.10:g.101764803_101764805del | NCBI36 |
| NG_008690.1:g.75706_75708del | |
| NG_008690.2:g.116514_116516del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.967_969del MANE Select | ENSP00000448059.1:p.Thr323del | |
| ENST00000307000.7:c.952_954del | ENSP00000303500.2:p.Thr318del | |
| ENST00000549247.6:n.726_728del | ||
| ENST00000551114.2:n.629_631del | ||
| ENST00000553106.5:c.967_969del | ENSP00000448059.1:p.Thr323del | |
| ENST00000635477.1:c.74-2466_74-2464del | ||
| ENST00000635528.1:n.482_484del | ||
| NM_000277.1:c.967_969del | NP_000268.1:p.Thr323del | |
| XM_011538422.1:c.913-2466_913-2464del | XP_011536724.1:n.913-2466_913-2464del | |
| NM_000277.2:c.967_969del | NP_000268.1:p.Thr323del | |
| NM_001354304.1:c.967_969del | NP_001341233.1:p.Thr323del | |
| NM_000277.3:c.967_969del MANE Select | NP_000268.1:p.Thr323del | |
| NM_001354304.2:c.967_969del | NP_001341233.1:p.Thr323del |