Linked Data
dbSNP Id:
rs78635692
gnomAD v2:
1-151344443-G-GGGCATTCTGCCAGCTC
gnomAD v3:
1-151371967-G-GGGCATTCTGCCAGCTC
gnomAD v4:
1-151371967-G-GGGCATTCTGCCAGCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151371984_151371999dup , CM000663.2:g.151371984_151371999dup | GRCh38 |
| NC_000001.10:g.151344460_151344475dup , CM000663.1:g.151344460_151344475dup | GRCh37 |
| NC_000001.9:g.149611084_149611099dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368868.10:c.4+655_4+670dup MANE Select | ENSP00000357861.5:n.4+655_4+670dup | |
| ENST00000368868.9:c.4+655_4+670dup | ENSP00000357861.5:n.4+655_4+670dup | |
| ENST00000423070.5:c.-80+655_-80+670dup | ENSP00000416206.1:n.-80+655_-80+670dup | |
| ENST00000426705.6:c.-80+655_-80+670dup | ENSP00000397261.2:n.-80+655_-80+670dup | |
| ENST00000427977.6:c.4+655_4+670dup | ENSP00000412816.1:n.4+655_4+670dup | |
| ENST00000443708.5:c.4+655_4+670dup | ENSP00000402531.1:n.4+655_4+670dup | |
| ENST00000447402.7:c.4+655_4+670dup | ENSP00000413960.3:n.4+655_4+670dup | |
| ENST00000455397.5:c.4+655_4+670dup | ENSP00000395637.1:n.4+655_4+670dup | |
| ENST00000455839.5:c.4+655_4+670dup | ENSP00000390433.1:n.4+655_4+670dup | |
| ENST00000458566.5:c.4+655_4+670dup | ENSP00000406222.1:n.4+655_4+670dup | |
| ENST00000463664.5:n.57+655_57+670dup | ||
| ENST00000470345.5:n.69+655_69+670dup | ||
| ENST00000473693.5:n.68+655_68+670dup | ||
| ENST00000474352.5:n.68+655_68+670dup | ||
| ENST00000492643.5:n.70+655_70+670dup | ||
| ENST00000493560.5:n.57+655_57+670dup | ||
| ENST00000498494.1:n.54+655_54+670dup | ||
| NM_001258288.1:c.4+655_4+670dup | NP_001245217.1:n.4+655_4+670dup | |
| NM_001258289.1:c.-80+655_-80+670dup | NP_001245218.1:n.-80+655_-80+670dup | |
| NM_003944.3:c.4+655_4+670dup | NP_003935.2:n.4+655_4+670dup | |
| XM_011510110.1:c.-35+655_-35+670dup | XP_011508412.1:n.-35+655_-35+670dup | |
| XR_921993.1:n.84+655_84+670dup | ||
| XM_024450671.1:c.-1161+655_-1161+670dup | XP_024306439.1:n.-1161+655_-1161+670dup | |
| XR_002957987.1:n.88+655_88+670dup | ||
| XR_921993.2:n.76+655_76+670dup | ||
| NM_003944.4:c.4+655_4+670dup MANE Select | NP_003935.2:n.4+655_4+670dup | |
| NM_001258288.2:c.4+655_4+670dup | NP_001245217.1:n.4+655_4+670dup | |
| NM_001258289.2:c.-80+655_-80+670dup | NP_001245218.1:n.-80+655_-80+670dup |