Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966080_154966081delinsCT , CM000685.2:g.154966080_154966081delinsCT | GRCh38 |
| NC_000023.10:g.154194355_154194356delinsCT , CM000685.1:g.154194355_154194356delinsCT | GRCh37 |
| NC_000023.9:g.153847549_153847550delinsCT | NCBI36 |
| NG_011403.1:g.61643_61644delinsAG | |
| NG_011403.2:g.61643_61644delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1332_1333delinsAG MANE Select | ENSP00000353393.4:p.Lys444= | |
| ENST00000647125.1:c.*1208_*1209delinsAG | ENSP00000496062.1:n.*1208_*1209delinsAG | |
| ENST00000360256.8:c.1332_1333delinsAG | ENSP00000353393.4:p.Lys444= | |
| ENST00000483822.2:n.152_153delinsAG | ||
| NM_000132.3:c.1332_1333delinsAG | NP_000123.1:p.Lys444= | |
| XM_011531126.1:c.1227_1228delinsAG | XP_011529428.1:p.Lys409= | |
| NM_000132.4:c.1332_1333delinsAG MANE Select | NP_000123.1:p.Lys444= |