Linked Data
dbSNP Id:
rs757082108
MyVariant Identifiers:
chr1:g.216420289_216420290insTGCACTGCCCTG (hg19)
chr1:g.216246947_216246948insTGCACTGCCCTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216246949_216246960dup , CM000663.2:g.216246949_216246960dup | GRCh38 |
| NC_000001.10:g.216420291_216420302dup , CM000663.1:g.216420291_216420302dup | GRCh37 |
| NC_000001.9:g.214486914_214486925dup | NCBI36 |
| NG_009497.1:g.181438_181449dup | |
| NG_009497.2:g.181490_181501dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2435_2446dup MANE Select | ENSP00000305941.3:p.Cys815_Ile816insThrGlyGlnCys | |
| ENST00000674083.1:c.2435_2446dup | ENSP00000501296.1:p.Cys815_Ile816insThrGlyGlnCys | |
| ENST00000307340.7:c.2435_2446dup | ENSP00000305941.3:p.Cys815_Ile816insThrGlyGlnCys | |
| ENST00000366942.3:c.2435_2446dup | ENSP00000355909.3:p.Cys815_Ile816insThrGlyGlnCys | |
| NM_007123.5:c.2435_2446dup | NP_009054.5:p.Cys815_Ile816insThrGlyGlnCys | |
| NM_206933.2:c.2435_2446dup | NP_996816.2:p.Cys815_Ile816insThrGlyGlnCys | |
| NM_206933.3:c.2435_2446dup | NP_996816.2:p.Cys815_Ile816insThrGlyGlnCys | |
| NM_007123.6:c.2435_2446dup | NP_009054.6:p.Cys815_Ile816insThrGlyGlnCys | |
| NM_206933.4:c.2435_2446dup MANE Select | NP_996816.3:p.Cys815_Ile816insThrGlyGlnCys |