Linked Data
dbSNP Id:
rs1269467931
MyVariant Identifiers:
chr19:g.45411990_45411991insGAGCACC (hg19)
chr19:g.44908733_44908734insGAGCACC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44908737_44908743dup , CM000681.2:g.44908737_44908743dup | GRCh38 |
| NC_000019.9:g.45411994_45412000dup , CM000681.1:g.45411994_45412000dup | GRCh37 |
| NC_000019.8:g.50103834_50103840dup | NCBI36 |
| NG_007084.2:g.7956_7962dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.441_447dup MANE Select | ENSP00000252486.3:p.Glu150HisfsTer17 | |
| ENST00000252486.8:c.441_447dup | ENSP00000252486.3:p.Glu150HisfsTer17 | |
| ENST00000425718.1:c.441_447dup | ENSP00000410423.1:p.Glu150HisfsTer17 | |
| ENST00000434152.5:c.519_525dup | ENSP00000413653.2:p.Glu176HisfsTer17 | |
| ENST00000446996.5:c.441_447dup | ENSP00000413135.1:p.Glu150HisfsTer17 | |
| NM_000041.3:c.441_447dup | NP_000032.1:p.Glu150HisfsTer17 | |
| NM_001302688.1:c.519_525dup | NP_001289617.1:p.Glu176HisfsTer17 | |
| NM_001302689.1:c.441_447dup | NP_001289618.1:p.Glu150HisfsTer17 | |
| NM_001302690.1:c.441_447dup | NP_001289619.1:p.Glu150HisfsTer17 | |
| NM_001302691.1:c.441_447dup | NP_001289620.1:p.Glu150HisfsTer17 | |
| NM_000041.4:c.441_447dup MANE Select | NP_000032.1:p.Glu150HisfsTer17 | |
| NM_001302688.2:c.519_525dup | NP_001289617.1:p.Glu176HisfsTer17 | |
| NM_001302689.2:c.441_447dup | NP_001289618.1:p.Glu150HisfsTer17 | |
| NM_001302691.2:c.441_447dup | NP_001289620.1:p.Glu150HisfsTer17 | |
| NM_001302690.2:c.441_447dup | NP_001289619.1:p.Glu150HisfsTer17 |