Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152311089_152311090delinsTG , CM000663.2:g.152311089_152311090delinsTG | GRCh38 |
| NC_000001.10:g.152283565_152283566delinsTG , CM000663.1:g.152283565_152283566delinsTG | GRCh37 |
| NC_000001.9:g.150550189_150550190delinsTG | NCBI36 |
| NG_016190.1:g.19114_19115delinsCA , LRG_1028:g.19114_19115delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.3796_3797delinsCA MANE Select | ENSP00000357789.1:p.Gln1266= | |
| ENST00000368799.1:c.3796_3797delinsCA | ENSP00000357789.1:p.Gln1266= | |
| NM_002016.1:c.3796_3797delinsCA , LRG_1028t1:c.3796_3797delinsCA | NP_002007.1:p.Gln1266= | |
| XM_011509329.1:c.3796_3797delinsCA | XP_011507631.1:p.Gln1266= | |
| NM_002016.2:c.3796_3797delinsCA MANE Select | NP_002007.1:p.Gln1266= |