Linked Data
dbSNP Id:
rs1401272369
gnomAD v3:
1-215675550-G-GGC
gnomAD v4:
1-215675550-G-GGC
MyVariant Identifiers:
chr1:g.215848892_215848893insGC (hg19)
chr1:g.215675550_215675551insGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675552_215675553dup , CM000663.2:g.215675552_215675553dup | GRCh38 |
| NC_000001.10:g.215848894_215848895dup , CM000663.1:g.215848894_215848895dup | GRCh37 |
| NC_000001.9:g.213915517_213915518dup | NCBI36 |
| NG_009497.1:g.752845_752846dup | |
| NG_009497.2:g.752897_752898dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12359_12360dup MANE Select | ENSP00000305941.3:p.Arg4121AlafsTer11 | |
| ENST00000674083.1:c.12359_12360dup | ENSP00000501296.1:p.Arg4121AlafsTer11 | |
| ENST00000307340.7:c.12359_12360dup | ENSP00000305941.3:p.Arg4121AlafsTer11 | |
| NM_206933.2:c.12359_12360dup | NP_996816.2:p.Arg4121AlafsTer11 | |
| NM_206933.3:c.12359_12360dup | NP_996816.2:p.Arg4121AlafsTer11 | |
| NM_206933.4:c.12359_12360dup MANE Select | NP_996816.3:p.Arg4121AlafsTer11 |