Linked Data
dbSNP Id:
rs375132261
ExAC:
3:53157899 CAT / C
gnomAD v2:
3-53157899-CAT-C
gnomAD v3:
3-53123883-CAT-C
gnomAD v4:
3-53123883-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53123885_53123886del , CM000665.2:g.53123885_53123886del | GRCh38 |
| NC_000003.11:g.53157901_53157902del , CM000665.1:g.53157901_53157902del | GRCh37 |
| NC_000003.10:g.53132941_53132942del | NCBI36 |
| NG_009203.1:g.11570_11571del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296292.8:c.150-45_150-44del MANE Select | ENSP00000296292.3:n.150-45_150-44del | |
| ENST00000296292.7:c.150-45_150-44del | ENSP00000296292.3:n.150-45_150-44del | |
| ENST00000394738.7:c.150-1322_150-1321del | ENSP00000378223.3:n.150-1322_150-1321del | |
| ENST00000467048.1:c.150-45_150-44del | ENSP00000420325.1:n.150-45_150-44del | |
| NM_052859.3:c.150-45_150-44del | NP_443091.1:n.150-45_150-44del | |
| XM_005265537.3:c.150-45_150-44del | XP_005265594.1:n.150-45_150-44del | |
| XM_006713384.2:c.150-45_150-44del | XP_006713447.1:n.150-45_150-44del | |
| XM_011534214.1:c.150-45_150-44del | XP_011532516.1:n.150-45_150-44del | |
| XM_011534215.1:c.150-45_150-44del | XP_011532517.1:n.150-45_150-44del | |
| XR_940507.1:n.209-45_209-44del | ||
| XM_005265537.4:c.150-45_150-44del | XP_005265594.1:n.150-45_150-44del | |
| XM_006713384.3:c.150-45_150-44del | XP_006713447.1:n.150-45_150-44del | |
| XM_011534214.2:c.150-45_150-44del | XP_011532516.1:n.150-45_150-44del | |
| XM_011534215.3:c.150-45_150-44del | XP_011532517.1:n.150-45_150-44del | |
| XM_011534216.3:c.-691-45_-691-44del | XP_011532518.1:n.-691-45_-691-44del | |
| XM_017007460.1:c.150-45_150-44del | XP_016862949.1:n.150-45_150-44del | |
| XM_017007461.2:c.-691-45_-691-44del | XP_016862950.1:n.-691-45_-691-44del | |
| XR_001740360.2:n.216-45_216-44del | ||
| NM_052859.4:c.150-45_150-44del MANE Select | NP_443091.1:n.150-45_150-44del |