Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567258_137567259delinsTG , CM000685.2:g.137567258_137567259delinsTG | GRCh38 |
| NC_000023.10:g.136649417_136649418delinsTG , CM000685.1:g.136649417_136649418delinsTG | GRCh37 |
| NC_000023.9:g.136477083_136477084delinsTG | NCBI36 |
| NG_008115.1:g.6072_6073delinsTG | |
| NG_008115.2:g.6132_6133delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.567_568delinsTG MANE Select | ENSP00000287538.5:p.Arg189= | |
| ENST00000287538.9:c.567_568delinsTG | ENSP00000287538.5:p.Arg189= | |
| ENST00000370606.3:c.567_568delinsTG | ENSP00000359638.3:p.Arg189= | |
| NM_003413.3:c.567_568delinsTG | NP_003404.1:p.Arg189= | |
| NM_001330661.1:c.567_568delinsTG | NP_001317590.1:p.Arg189= | |
| NM_003413.4:c.567_568delinsTG MANE Select | NP_003404.1:p.Arg189= |