Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116837_19116838delinsAC , CM000669.2:g.19116837_19116838delinsAC | GRCh38 |
| NC_000007.13:g.19156460_19156461delinsAC , CM000669.1:g.19156460_19156461delinsAC | GRCh37 |
| NC_000007.12:g.19122985_19122986delinsAC | NCBI36 |
| NG_008114.1:g.5835_5836delinsGT | |
| NG_008114.2:g.5835_5836delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.484_485delinsGT MANE Select | ENSP00000242261.5:p.Val162= | |
| ENST00000242261.5:c.484_485delinsGT | ENSP00000242261.5:p.Val162= | |
| ENST00000354571.5:c.281_282delinsGT | ||
| ENST00000443687.5:c.87_88delinsGT | ||
| NM_000474.3:c.484_485delinsGT | NP_000465.1:p.Val162= | |
| XM_011515496.1:c.484_485delinsGT | XP_011513798.1:p.Val162= | |
| NR_149001.1:n.835_836delinsGT | ||
| NM_000474.4:c.484_485delinsGT MANE Select | NP_000465.1:p.Val162= | |
| NR_149001.2:n.799_800delinsGT |