Linked Data
dbSNP Id:
rs746465400
ExAC:
11:47436693 GGAA / G
gnomAD v2:
11-47436693-GGAA-G
gnomAD v3:
11-47415142-GGAA-G
gnomAD v4:
11-47415142-GGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47415148_47415150del , CM000673.2:g.47415148_47415150del | GRCh38 |
| NC_000011.9:g.47436699_47436701del , CM000673.1:g.47436699_47436701del | GRCh37 |
| NC_000011.8:g.47393275_47393277del | NCBI36 |
| NG_017073.1:g.11654_11656del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362021.9:c.1029_1031del MANE Select | ENSP00000354689.4:p.Glu344del | |
| ENST00000354884.8:c.1008_1010del | ENSP00000346956.4:p.Glu337del | |
| ENST00000362021.8:c.1029_1031del | ENSP00000354689.4:p.Glu344del | |
| ENST00000524886.1:n.287_289del | ||
| ENST00000524928.1:c.*1231_*1233del | ENSP00000437186.1:n.*1231_*1233del | |
| ENST00000527829.1:n.261_263del | ||
| ENST00000533076.5:c.*26_*28del | ENSP00000434290.1:n.*26_*28del | |
| NM_001128225.2:c.1029_1031del | NP_001121697.1:p.Glu344del | |
| NM_152264.4:c.1008_1010del | NP_689477.2:p.Glu337del | |
| XM_006718381.2:c.1053_1055del | XP_006718444.1:p.Glu352del | |
| XM_006718383.2:c.945_947del | XP_006718446.1:p.Glu316del | |
| XM_006718384.2:c.*26_*28del | XP_006718447.1:n.*26_*28del | |
| XM_006718385.2:c.*26_*28del | XP_006718448.1:n.*26_*28del | |
| XM_011520466.1:c.1074_1076del | XP_011518768.1:p.Glu359del | |
| XM_011520467.1:c.1029_1031del | XP_011518769.1:p.Glu344del | |
| XM_011520468.1:c.1029_1031del | XP_011518770.1:p.Glu344del | |
| XM_011520469.1:c.966_968del | XP_011518771.1:p.Glu323del | |
| XM_011520470.1:c.921_923del | XP_011518772.1:p.Glu308del | |
| XR_242832.1:n.1414_1416del | ||
| XR_428862.2:n.1089_1091del | ||
| XR_428863.2:n.1085_1087del | ||
| XR_930928.1:n.1110_1112del | ||
| NM_001330245.1:c.*26_*28del | NP_001317174.1:n.*26_*28del | |
| NR_134854.1:n.1270_1272del | ||
| XM_006718381.3:c.1053_1055del | XP_006718444.1:p.Glu352del | |
| XM_006718383.3:c.945_947del | XP_006718446.1:p.Glu316del | |
| XM_011520468.3:c.1029_1031del | XP_011518770.1:p.Glu344del | |
| XM_011520470.2:c.921_923del | XP_011518772.1:p.Glu308del | |
| XM_017018540.2:c.1008_1010del | XP_016874029.1:p.Glu337del | |
| XM_017018541.2:c.900_902del | XP_016874030.1:p.Glu301del | |
| XM_024448762.1:c.1158_1160del | XP_024304530.1:p.Glu387del | |
| XR_001748027.1:n.1229_1231del | ||
| XR_001748028.1:n.1211_1213del | ||
| XR_428862.3:n.1089_1091del | ||
| XR_428863.3:n.1085_1087del | ||
| XR_930928.2:n.1110_1112del | ||
| NM_001128225.3:c.1029_1031del MANE Select | NP_001121697.2:p.Glu344del | |
| NM_001330245.2:c.*26_*28del | NP_001317174.2:n.*26_*28del | |
| NM_152264.5:c.1008_1010del | NP_689477.3:p.Glu337del |