Linked Data
ClinVar Variation Id:
102767
dbSNP Id:
rs62514929
ExAC:
12:103248987 TG / T
gnomAD v2:
12-103248987-TG-T
gnomAD v4:
12-102855209-TG-T
ERepo:
CA229667/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855211del , CM000674.2:g.102855211del | GRCh38 |
| NC_000012.11:g.103248989del , CM000674.1:g.103248989del | GRCh37 |
| NC_000012.10:g.101773119del | NCBI36 |
| NG_008690.1:g.67393del | |
| NG_008690.2:g.108201del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.632del MANE Select | ENSP00000448059.1:p.Pro211HisfsTer? | |
| ENST00000307000.7:c.617del | ENSP00000303500.2:p.Pro206HisfsTer? | |
| ENST00000549111.5:n.728del | ||
| ENST00000553106.5:c.632del | ENSP00000448059.1:p.Pro211HisfsTer? | |
| NM_000277.1:c.632del | NP_000268.1:p.Pro211HisfsTer? | |
| XM_011538422.1:c.632del | XP_011536724.1:p.Pro211HisfsTer? | |
| NM_000277.2:c.632del | NP_000268.1:p.Pro211HisfsTer? | |
| NM_001354304.1:c.632del | NP_001341233.1:p.Pro211HisfsTer? | |
| XM_017019370.2:c.632del | XP_016874859.1:p.Pro211HisfsTer? | |
| NM_000277.3:c.632del MANE Select | NP_000268.1:p.Pro211HisfsTer? | |
| NM_001354304.2:c.632del | NP_001341233.1:p.Pro211HisfsTer? |