Linked Data
dbSNP Id:
rs1234109628
gnomAD v2:
11-92705109-T-TAACA
gnomAD v3:
11-92971943-T-TAACA
gnomAD v4:
11-92971943-T-TAACA
MyVariant Identifiers:
chr11:g.92705109_92705110insAACA (hg19)
chr11:g.92971943_92971944insAACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.92971944_92971947dup , CM000673.2:g.92971944_92971947dup | GRCh38 |
| NC_000011.9:g.92705110_92705113dup , CM000673.1:g.92705110_92705113dup | GRCh37 |
| NC_000011.8:g.92344758_92344761dup | NCBI36 |
| NG_028160.1:g.7322_7325dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257068.3:c.223+1996_223+1999dup MANE Select | ENSP00000257068.2:n.223+1996_223+1999dup | |
| ENST00000257068.2:c.223+1996_223+1999dup | ENSP00000257068.2:n.223+1996_223+1999dup | |
| ENST00000528076.1:c.165+1996_165+1999dup | ||
| ENST00000532482.1:c.224-517_224-514dup | ENSP00000436101.1:n.224-517_224-514dup | |
| NM_005959.3:c.223+1996_223+1999dup | NP_005950.1:n.223+1996_223+1999dup | |
| XM_011542839.1:c.223+1996_223+1999dup | XP_011541141.1:n.223+1996_223+1999dup | |
| XM_011542839.2:c.223+1996_223+1999dup | XP_011541141.1:n.223+1996_223+1999dup | |
| NM_005959.5:c.223+1996_223+1999dup MANE Select | NP_005950.1:n.223+1996_223+1999dup |