Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6018394_6018395delinsAG , CM000674.2:g.6018394_6018395delinsAG | GRCh38 |
| NC_000012.11:g.6127560_6127561delinsAG , CM000674.1:g.6127560_6127561delinsAG | GRCh37 |
| NC_000012.10:g.5997821_5997822delinsAG | NCBI36 |
| NG_009072.1:g.111276_111277delinsCT | |
| NG_009072.2:g.111276_111277delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.5023_5024delinsCT MANE Select | ENSP00000261405.5:p.Leu1675= | |
| ENST00000261405.9:c.5023_5024delinsCT | ENSP00000261405.5:p.Leu1675= | |
| ENST00000538635.5:n.421-24461_421-24460delinsCT | ||
| NM_000552.3:c.5023_5024delinsCT | NP_000543.2:p.Leu1675= | |
| NM_000552.4:c.5023_5024delinsCT | NP_000543.2:p.Leu1675= | |
| NM_000552.5:c.5023_5024delinsCT MANE Select | NP_000543.3:p.Leu1675= |