Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101273563_101273564insG , CM000665.2:g.101273563_101273564insG | GRCh38 |
| NC_000003.11:g.100992407_100992408insG , CM000665.1:g.100992407_100992408insG | GRCh37 |
| NC_000003.10:g.102475097_102475098insG | NCBI36 |
| NG_028284.1:g.52012_52013insC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.828+17_828+18insC MANE Select | NP_057331.2:n.828+17_828+18insC |
| ENST00000193391.8:c.828+17_828+18insC MANE Select | ENSP00000193391.6:n.828+17_828+18insC |
| NM_016247.3:c.828+17_828+18insC | NP_057331.2:n.828+17_828+18insC |
| ENST00000193391.7:c.828+17_828+18insC | ENSP00000193391.6:n.828+17_828+18insC |
| XM_011512871.1:c.534+17_534+18insC | XP_011511173.1:n.534+17_534+18insC |
| XM_011512872.1:c.417+17_417+18insC | XP_011511174.1:n.417+17_417+18insC |