Linked Data
dbSNP Id:
rs776662013
ExAC:
2:44102499 ACTC / A
gnomAD v2:
2-44102499-ACTC-A
gnomAD v3:
2-43875360-ACTC-A
gnomAD v4:
2-43875360-ACTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875363_43875365del , CM000664.2:g.43875363_43875365del | GRCh38 |
| NC_000002.11:g.44102502_44102504del , CM000664.1:g.44102502_44102504del | GRCh37 |
| NC_000002.10:g.43956006_43956008del | NCBI36 |
| NG_008884.1:g.41400_41402del | |
| NG_008884.2:g.48422_48424del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1706_1708del MANE Select | ENSP00000272286.2:p.Ser569del | |
| ENST00000272286.2:c.1706_1708del | ENSP00000272286.2:p.Ser569del | |
| NM_022437.2:c.1706_1708del | NP_071882.1:p.Ser569del | |
| XM_005264483.2:c.1703_1705del | XP_005264540.1:p.Ser568del | |
| XM_011533029.1:c.1718_1720del | XP_011531331.1:p.Ser573del | |
| XM_011533030.1:c.1715_1717del | XP_011531332.1:p.Ser572del | |
| XM_011533031.1:c.1490_1492del | XP_011531333.1:p.Ser497del | |
| XR_939707.1:n.2208_2210del | ||
| NM_001357321.1:c.1703_1705del | NP_001344250.1:p.Ser568del | |
| XM_011533029.2:c.1718_1720del | XP_011531331.1:p.Ser573del | |
| XM_011533030.2:c.1715_1717del | XP_011531332.1:p.Ser572del | |
| XR_001738891.1:n.2222_2224del | ||
| XR_939707.2:n.2222_2224del | ||
| NM_022437.3:c.1706_1708del MANE Select | NP_071882.1:p.Ser569del | |
| NM_001357321.2:c.1703_1705del | NP_001344250.1:p.Ser568del |