Linked Data
dbSNP Id:
rs1483395945
gnomAD v2:
1-12042312-CTACCG-C
gnomAD v3:
1-11982255-CTACCG-C
gnomAD v4:
1-11982255-CTACCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11982258_11982262del , CM000663.2:g.11982258_11982262del | GRCh38 |
| NC_000001.10:g.12042315_12042319del , CM000663.1:g.12042315_12042319del | GRCh37 |
| NC_000001.9:g.11964902_11964906del | NCBI36 |
| NG_007945.1:g.7078_7082del , LRG_255:g.7078_7082del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235329.10:c.-5+144_-5+148del MANE Select | ENSP00000235329.5:n.-5+144_-5+148del | |
| ENST00000412236.2:c.-73+144_-73+148del | ENSP00000412023.1:n.-73+144_-73+148del | |
| ENST00000674548.1:c.-95+1774_-95+1778del | ENSP00000502185.1:n.-95+1774_-95+1778del | |
| ENST00000674658.1:c.-103+144_-103+148del | ENSP00000502334.1:n.-103+144_-103+148del | |
| ENST00000674706.1:n.367+144_367+148del | ||
| ENST00000674817.1:c.-5+1774_-5+1778del | ENSP00000502151.1:n.-5+1774_-5+1778del | |
| ENST00000674910.1:c.-127+1774_-127+1778del | ENSP00000501716.1:n.-127+1774_-127+1778del | |
| ENST00000675053.1:c.-5+144_-5+148del | ENSP00000501646.1:n.-5+144_-5+148del | |
| ENST00000675113.1:c.-67+144_-67+148del | ENSP00000502623.1:n.-67+144_-67+148del | |
| ENST00000675194.1:n.421+144_421+148del | ||
| ENST00000675231.1:c.-73+144_-73+148del | ENSP00000502404.1:n.-73+144_-73+148del | |
| ENST00000675298.1:c.-5+144_-5+148del | ENSP00000501839.1:n.-5+144_-5+148del | |
| ENST00000675512.1:c.-5+144_-5+148del | ENSP00000502630.1:n.-5+144_-5+148del | |
| ENST00000675530.1:c.-5+144_-5+148del | ENSP00000501972.1:n.-5+144_-5+148del | |
| ENST00000675781.1:c.-5+144_-5+148del | ENSP00000501947.1:n.-5+144_-5+148del | |
| ENST00000675817.1:c.-5+144_-5+148del | ENSP00000502422.1:n.-5+144_-5+148del | |
| ENST00000675872.1:n.247+1774_247+1778del | ||
| ENST00000675919.1:c.-95+144_-95+148del | ENSP00000501776.1:n.-95+144_-95+148del | |
| ENST00000675959.1:n.393+144_393+148del | ||
| ENST00000675987.1:c.-5+144_-5+148del | ENSP00000502145.1:n.-5+144_-5+148del | |
| ENST00000676293.1:c.-127+144_-127+148del | ENSP00000502362.1:n.-127+144_-127+148del | |
| ENST00000676369.1:c.-73+144_-73+148del | ENSP00000502005.1:n.-73+144_-73+148del | |
| ENST00000676426.1:c.-5+144_-5+148del | ENSP00000502359.1:n.-5+144_-5+148del | |
| ENST00000235329.9:c.-5+144_-5+148del | ENSP00000235329.5:n.-5+144_-5+148del | |
| ENST00000412236.1:c.-73+144_-73+148del | ENSP00000412023.1:n.-73+144_-73+148del | |
| ENST00000444836.5:c.-5+1774_-5+1778del | ENSP00000416338.1:n.-5+1774_-5+1778del | |
| ENST00000484391.5:n.115+1774_115+1778del | ||
| ENST00000490079.5:n.375+144_375+148del | ||
| ENST00000497302.1:n.195+144_195+148del | ||
| NM_001127660.1:c.-5+1774_-5+1778del | NP_001121132.1:n.-5+1774_-5+1778del | |
| NM_014874.3:c.-5+144_-5+148del , LRG_255t1:c.-5+144_-5+148del | NP_055689.1:n.-5+144_-5+148del | |
| XM_005263543.2:c.-73+144_-73+148del | XP_005263600.1:n.-73+144_-73+148del | |
| XM_005263545.2:c.-5+144_-5+148del | XP_005263602.1:n.-5+144_-5+148del | |
| XM_005263547.2:c.-5+144_-5+148del | XP_005263604.1:n.-5+144_-5+148del | |
| XM_005263548.2:c.-73+144_-73+148del | XP_005263605.1:n.-73+144_-73+148del | |
| XM_005263543.3:c.-73+144_-73+148del | XP_005263600.1:n.-73+144_-73+148del | |
| XM_005263545.3:c.-5+144_-5+148del | XP_005263602.1:n.-5+144_-5+148del | |
| XM_005263547.3:c.-5+144_-5+148del | XP_005263604.1:n.-5+144_-5+148del | |
| XM_005263548.3:c.-73+144_-73+148del | XP_005263605.1:n.-73+144_-73+148del | |
| XM_024451299.1:c.-73+144_-73+148del | XP_024307067.1:n.-73+144_-73+148del | |
| NM_014874.4:c.-5+144_-5+148del MANE Select | NP_055689.1:n.-5+144_-5+148del | |
| NM_001127660.2:c.-5+1774_-5+1778del | NP_001121132.1:n.-5+1774_-5+1778del |