Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154903708_154903709delinsTA , CM000685.2:g.154903708_154903709delinsTA | GRCh38 |
| NC_000023.10:g.154131983_154131984delinsTA , CM000685.1:g.154131983_154131984delinsTA | GRCh37 |
| NC_000023.9:g.153785177_153785178delinsTA | NCBI36 |
| NG_011403.1:g.124015_124016delinsTA | |
| NG_011403.2:g.124015_124016delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5998+197_5998+198delinsTA MANE Select | ENSP00000353393.4:n.5998+197_5998+198delinsTA | |
| ENST00000360256.8:c.5998+197_5998+198delinsTA | ENSP00000353393.4:n.5998+197_5998+198delinsTA | |
| NM_000132.3:c.5998+197_5998+198delinsTA | NP_000123.1:n.5998+197_5998+198delinsTA | |
| XM_011531126.1:c.5893+197_5893+198delinsTA | XP_011529428.1:n.5893+197_5893+198delinsTA | |
| NM_000132.4:c.5998+197_5998+198delinsTA MANE Select | NP_000123.1:n.5998+197_5998+198delinsTA |