Linked Data
dbSNP Id:
rs752596289
ExAC:
7:44186044 C / CCCT
gnomAD v2:
7-44186044-C-CCCT
gnomAD v4:
7-44146445-C-CCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44146454_44146456dup , CM000669.2:g.44146454_44146456dup | GRCh38 |
| NC_000007.13:g.44186053_44186055dup , CM000669.1:g.44186053_44186055dup | GRCh37 |
| NC_000007.12:g.44152578_44152580dup | NCBI36 |
| NG_008847.1:g.47976_47978dup | |
| NG_008847.2:g.56723_56725dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1017+15_*1017+17dup | ENSP00000379142.4:n.*1017+15_*1017+17dup | |
| ENST00000616242.5:c.*139+15_*139+17dup | ENSP00000482149.2:n.*139+15_*139+17dup | |
| ENST00000683378.1:n.245+15_245+17dup | ||
| ENST00000345378.7:c.1022+15_1022+17dup | ENSP00000223366.2:n.1022+15_1022+17dup | |
| ENST00000403799.8:c.1019+15_1019+17dup MANE Select | ENSP00000384247.3:n.1019+15_1019+17dup | |
| ENST00000671824.1:c.1082+15_1082+17dup | ENSP00000500264.1:n.1082+15_1082+17dup | |
| ENST00000673284.1:c.1019+15_1019+17dup | ENSP00000499852.1:n.1019+15_1019+17dup | |
| ENST00000345378.6:c.1022+15_1022+17dup | ENSP00000223366.2:n.1022+15_1022+17dup | |
| ENST00000395796.7:c.1016+15_1016+17dup | ENSP00000379142.3:n.1016+15_1016+17dup | |
| ENST00000403799.7:c.1019+15_1019+17dup | ENSP00000384247.3:n.1019+15_1019+17dup | |
| ENST00000437084.1:c.968+15_968+17dup | ENSP00000402840.1:n.968+15_968+17dup | |
| ENST00000473353.1:n.317+15_317+17dup | ||
| ENST00000616242.4:c.1016+15_1016+17dup | ENSP00000482149.1:n.1016+15_1016+17dup | |
| NM_000162.3:c.1019+15_1019+17dup | NP_000153.1:n.1019+15_1019+17dup | |
| NM_033507.1:c.1022+15_1022+17dup | NP_277042.1:n.1022+15_1022+17dup | |
| NM_033508.1:c.1016+15_1016+17dup | NP_277043.1:n.1016+15_1016+17dup | |
| NM_000162.4:c.1019+15_1019+17dup | NP_000153.1:n.1019+15_1019+17dup | |
| NM_001354800.1:c.1019+15_1019+17dup | NP_001341729.1:n.1019+15_1019+17dup | |
| NM_001354801.1:c.8+171_8+173dup | NP_001341730.1:n.8+171_8+173dup | |
| NM_033507.2:c.1022+15_1022+17dup | NP_277042.1:n.1022+15_1022+17dup | |
| NM_033508.2:c.1016+15_1016+17dup | NP_277043.1:n.1016+15_1016+17dup | |
| NM_000162.5:c.1019+15_1019+17dup MANE Select | NP_000153.1:n.1019+15_1019+17dup | |
| NM_033507.3:c.1022+15_1022+17dup | NP_277042.1:n.1022+15_1022+17dup | |
| NM_033508.3:c.1016+15_1016+17dup | NP_277043.1:n.1016+15_1016+17dup |