Linked Data
dbSNP Id:
rs761283803
ExAC:
12:21715917 CAT / C
gnomAD v2:
12-21715917-CAT-C
gnomAD v4:
12-21562983-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21562985_21562986del , CM000674.2:g.21562985_21562986del | GRCh38 |
| NC_000012.11:g.21715919_21715920del , CM000674.1:g.21715919_21715920del | GRCh37 |
| NC_000012.10:g.21607186_21607187del | NCBI36 |
| NG_016167.1:g.46863_46864del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261195.3:c.995_996del MANE Select | ENSP00000261195.2:p.Tyr332Ter | |
| ENST00000647960.1:c.*997_*998del | ENSP00000497202.1:n.*997_*998del | |
| ENST00000648372.1:n.922_923del | ||
| ENST00000261195.2:c.995_996del | ENSP00000261195.2:p.Tyr332Ter | |
| NM_021957.3:c.995_996del | NP_068776.2:p.Tyr332Ter | |
| XM_005253352.1:c.995_996del | XP_005253409.1:p.Tyr332Ter | |
| XM_005253354.2:c.776_777del | XP_005253411.1:p.Tyr259Ter | |
| XM_006719062.2:c.995_996del | XP_006719125.1:p.Tyr332Ter | |
| XM_006719063.2:c.764_765del | XP_006719126.1:p.Tyr255Ter | |
| NM_021957.4:c.995_996del MANE Select | NP_068776.2:p.Tyr332Ter | |
| XM_006719063.3:c.764_765del | XP_006719126.1:p.Tyr255Ter | |
| XM_017019245.2:c.995_996del | XP_016874734.1:p.Tyr332Ter | |
| XM_024448960.1:c.995_996del | XP_024304728.1:p.Tyr332Ter |