Linked Data
dbSNP Id:
rs1415857599
gnomAD v2:
1-94527930-C-CACTGCACT
gnomAD v3:
1-94062374-C-CACTGCACT
gnomAD v4:
1-94062374-C-CACTGCACT
MyVariant Identifiers:
chr1:g.94527930_94527931insACTGCACT (hg19)
chr1:g.94062374_94062375insACTGCACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062375_94062382dup , CM000663.2:g.94062375_94062382dup | GRCh38 |
| NC_000001.10:g.94527931_94527938dup , CM000663.1:g.94527931_94527938dup | GRCh37 |
| NC_000001.9:g.94300519_94300526dup | NCBI36 |
| NG_009073.1:g.63768_63775dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1937+195_1937+202dup MANE Select | ENSP00000359245.3:n.1937+195_1937+202dup | |
| ENST00000649773.1:c.1937+195_1937+202dup | ENSP00000496882.1:n.1937+195_1937+202dup | |
| ENST00000370225.3:c.1937+195_1937+202dup | ENSP00000359245.3:n.1937+195_1937+202dup | |
| ENST00000536513.5:c.-65+792_-65+799dup | ENSP00000439707.2:n.-65+792_-65+799dup | |
| NM_000350.2:c.1937+195_1937+202dup | NP_000341.2:n.1937+195_1937+202dup | |
| NM_000350.3:c.1937+195_1937+202dup MANE Select | NP_000341.2:n.1937+195_1937+202dup |