Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320464_159320468delinsACTCT , CM000667.2:g.159320464_159320468delinsACTCT | GRCh38 |
| NC_000005.9:g.158747472_158747476delinsACTCT , CM000667.1:g.158747472_158747476delinsACTCT | GRCh37 |
| NC_000005.8:g.158680050_158680054delinsACTCT | NCBI36 |
| NG_009618.1:g.15006_15010delinsAGAGT , LRG_71:g.15006_15010delinsAGAGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-96_-92delinsAGAGT | ENSP00000512849.1:n.-96_-92delinsAGAGT | |
| ENST00000696751.1:c.*30_*34delinsAGAGT | ENSP00000512850.1:n.*30_*34delinsAGAGT | |
| ENST00000231228.3:c.535_539delinsAGAGT MANE Select | ENSP00000231228.2:p.Arg179= | |
| ENST00000231228.2:c.535_539delinsAGAGT | ENSP00000231228.2:p.Arg179= | |
| NM_002187.2:c.535_539delinsAGAGT , LRG_71t1:c.535_539delinsAGAGT | NP_002178.2:p.Arg179= | |
| XR_001742945.1:n.15_19delinsACTCT | ||
| NM_002187.3:c.535_539delinsAGAGT MANE Select | NP_002178.2:p.Arg179= |