Linked Data
dbSNP Id:
rs150268373
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887136_12887137insGC , CM000681.2:g.12887136_12887137insGC | GRCh38 |
| NC_000019.9:g.12997950_12997951insGC , CM000681.1:g.12997950_12997951insGC | GRCh37 |
| NC_000019.8:g.12858950_12858951insGC | NCBI36 |
| NG_009292.1:g.977_978insGC | |
| NG_013087.1:g.5067_5068insGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.4_5insGC MANE Select | ENSP00000264834.3:p.Ala2GlyfsTer14 | |
| ENST00000264834.4:c.4_5insGC | ENSP00000264834.3:p.Ala2GlyfsTer14 | |
| NM_006563.3:c.4_5insGC | NP_006554.1:p.Ala2GlyfsTer14 | |
| NM_006563.4:c.4_5insGC | NP_006554.1:p.Ala2GlyfsTer14 | |
| NM_006563.5:c.4_5insGC MANE Select | NP_006554.1:p.Ala2GlyfsTer14 |