Linked Data
dbSNP Id:
rs1176435231
gnomAD v2:
10-62185348-AC-A
gnomAD v3:
10-60425590-AC-A
gnomAD v4:
10-60425590-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60425591del , CM000672.2:g.60425591del | GRCh38 |
| NC_000010.10:g.62185349del , CM000672.1:g.62185349del | GRCh37 |
| NC_000010.9:g.61855355del | NCBI36 |
| NG_029917.1:g.312936del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503366.6:c.64-145952del | ENSP00000425236.1:n.64-145952del | |
| ENST00000373827.6:c.97-145952del | ENSP00000362933.2:n.97-145952del | |
| ENST00000503366.5:c.64-145952del | ENSP00000425236.1:n.64-145952del | |
| ENST00000622427.4:c.64-145952del | ENSP00000483244.1:n.64-145952del | |
| NM_001204403.1:c.97-145952del | NP_001191332.1:n.97-145952del | |
| NM_001204404.1:c.64-145952del | NP_001191333.1:n.64-145952del | |
| XM_011539700.1:c.103-145952del | XP_011538002.1:n.103-145952del | |
| XM_011539701.1:c.97-145952del | XP_011538003.1:n.97-145952del | |
| XM_011539702.1:c.58-145952del | XP_011538004.1:n.58-145952del | |
| XM_011539704.1:c.15+72393del | XP_011538006.1:n.15+72393del | |
| XM_017016114.1:c.64-145952del | XP_016871603.1:n.64-145952del | |
| XM_024447958.1:c.64-145952del | XP_024303726.1:n.64-145952del | |
| NM_001204403.2:c.97-145952del | NP_001191332.1:n.97-145952del | |
| NM_001204404.2:c.64-145952del | NP_001191333.1:n.64-145952del |