Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877317_240877319delinsCTG , CM000664.2:g.240877317_240877319delinsCTG | GRCh38 |
| NC_000002.11:g.241816734_241816736delinsCTG , CM000664.1:g.241816734_241816736delinsCTG | GRCh37 |
| NC_000002.10:g.241465407_241465409delinsCTG | NCBI36 |
| NG_008005.1:g.13573_13575delinsCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.847-220_847-218delinsCTG MANE Select | ENSP00000302620.3:n.847-220_847-218delinsCTG | |
| ENST00000307503.3:c.847-220_847-218delinsCTG | ENSP00000302620.3:n.847-220_847-218delinsCTG | |
| ENST00000470255.1:n.405_407delinsCTG | ||
| NM_000030.2:c.847-220_847-218delinsCTG | NP_000021.1:n.847-220_847-218delinsCTG | |
| NM_000030.3:c.847-220_847-218delinsCTG MANE Select | NP_000021.1:n.847-220_847-218delinsCTG |