Linked Data
dbSNP Id:
rs767885880
ExAC:
12:110778521 GCCT / G
gnomAD v2:
12-110778521-GCCT-G
gnomAD v4:
12-110340716-GCCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110340722_110340724del , CM000674.2:g.110340722_110340724del | GRCh38 |
| NC_000012.11:g.110778527_110778529del , CM000674.1:g.110778527_110778529del | GRCh37 |
| NC_000012.10:g.109262910_109262912del | NCBI36 |
| NG_007097.2:g.64096_64098del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539276.7:c.1825_1827del MANE Select | ENSP00000440045.2:p.Ser609del | |
| ENST00000308664.10:c.1825_1827del | ENSP00000311186.6:p.Ser609del | |
| ENST00000377685.9:c.*1665_*1667del | ENSP00000366913.4:n.*1665_*1667del | |
| ENST00000539276.6:c.1825_1827del | ENSP00000440045.2:p.Ser609del | |
| ENST00000548169.2:c.1496_1498del | ||
| NM_001681.3:c.1825_1827del | NP_001672.1:p.Ser609del | |
| NM_170665.3:c.1825_1827del | NP_733765.1:p.Ser609del | |
| XM_005253888.1:c.1825_1827del | XP_005253945.1:p.Ser609del | |
| XM_011538402.1:c.1825_1827del | XP_011536704.1:p.Ser609del | |
| XM_011538403.1:c.1825_1827del | XP_011536705.1:p.Ser609del | |
| XR_243009.1:n.1831_1833del | ||
| XM_005253888.3:c.1825_1827del | XP_005253945.1:p.Ser609del | |
| XM_011538402.3:c.1825_1827del | XP_011536704.1:p.Ser609del | |
| XR_002957329.1:n.1831_1833del | ||
| XR_243009.3:n.1831_1833del | ||
| NM_170665.4:c.1825_1827del MANE Select | NP_733765.1:p.Ser609del | |
| NM_001681.4:c.1825_1827del | NP_001672.1:p.Ser609del |