Linked Data
dbSNP Id:
rs774424367
gnomAD v3:
8-80119522-A-ACAGT
gnomAD v4:
8-80119522-A-ACAGT
MyVariant Identifiers:
chr8:g.81031757_81031758insCAGT (hg19)
chr8:g.80119522_80119523insCAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.80119523_80119526dup , CM000670.2:g.80119523_80119526dup | GRCh38 |
| NC_000008.10:g.81031758_81031761dup , CM000670.1:g.81031758_81031761dup | GRCh37 |
| NC_000008.9:g.81194313_81194316dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518937.6:c.19+51899_19+51902dup MANE Select | ENSP00000429915.1:n.19+51899_19+51902dup | |
| ENST00000379096.9:c.19+51899_19+51902dup | ENSP00000368390.4:n.19+51899_19+51902dup | |
| ENST00000518517.5:c.89+289_89+292dup | ENSP00000430421.1:n.89+289_89+292dup | |
| ENST00000518937.5:c.19+51899_19+51902dup | ENSP00000429915.1:n.19+51899_19+51902dup | |
| ENST00000519250.5:n.236-54933_236-54930dup | ||
| ENST00000519303.6:c.-423+51495_-423+51498dup | ENSP00000428951.1:n.-423+51495_-423+51498dup | |
| ENST00000520795.5:c.177+51681_177+51684dup | ||
| ENST00000521241.6:c.19+51899_19+51902dup | ENSP00000430323.1:n.19+51899_19+51902dup | |
| ENST00000521354.5:c.19+51899_19+51902dup | ENSP00000430646.1:n.19+51899_19+51902dup | |
| ENST00000521561.1:n.451+38911_451+38914dup | ||
| ENST00000523753.5:c.89+289_89+292dup | ENSP00000430140.1:n.89+289_89+292dup | |
| NM_001025253.2:c.19+51899_19+51902dup | NP_001020424.1:n.19+51899_19+51902dup | |
| NM_001287144.1:c.19+51899_19+51902dup | NP_001274073.1:n.19+51899_19+51902dup | |
| NM_005079.3:c.19+51899_19+51902dup | NP_005070.1:n.19+51899_19+51902dup | |
| NR_105034.1:n.235+51899_235+51902dup | ||
| NR_105035.1:n.305+289_305+292dup | ||
| NR_105036.1:n.180+51495_180+51498dup | ||
| NR_105037.1:n.250+289_250+292dup | ||
| NM_001025253.3:c.19+51899_19+51902dup MANE Select | NP_001020424.1:n.19+51899_19+51902dup | |
| NM_001287144.2:c.19+51899_19+51902dup | NP_001274073.1:n.19+51899_19+51902dup | |
| NM_005079.4:c.19+51899_19+51902dup | NP_005070.1:n.19+51899_19+51902dup | |
| NR_105034.2:n.140+51899_140+51902dup | ||
| NR_105035.2:n.210+289_210+292dup | ||
| NR_105036.2:n.101+51495_101+51498dup | ||
| NR_105037.2:n.171+289_171+292dup | ||
| NM_001387778.1:c.19+51899_19+51902dup | NP_001374707.1:n.19+51899_19+51902dup | |
| NM_001387779.1:c.19+51899_19+51902dup | NP_001374708.1:n.19+51899_19+51902dup | |
| NM_001387780.1:c.-65-9591_-65-9588dup | NP_001374709.1:n.-65-9591_-65-9588dup | |
| NR_170693.1:n.140+51899_140+51902dup | ||
| NR_170694.1:n.140+51899_140+51902dup |