Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966105_37966106insGTG , CM000670.2:g.37966105_37966106insGTG | GRCh38 |
| NC_000008.10:g.37823623_37823624insGTG , CM000670.1:g.37823623_37823624insGTG | GRCh37 |
| NC_000008.9:g.37942780_37942781insGTG | NCBI36 |
| NG_011936.1:g.5562_5563insACC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.365_366insACC MANE Select | NP_000016.1:p.Thr122_Ala123insPro |
| ENST00000345060.5:c.365_366insACC MANE Select | ENSP00000343782.3:p.Thr122_Ala123insPro |
| NM_000025.2:c.365_366insACC | NP_000016.1:p.Thr122_Ala123insPro |
| ENST00000345060.4:c.365_366insACC | ENSP00000343782.3:p.Thr122_Ala123insPro |
| ENST00000520341.2:n.493_494insACC | |
| ENST00000614635.1:c.365_366insACC | ENSP00000480325.1:p.Thr122_Ala123insPro |