Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992816_177992817del , CM000667.2:g.177992816_177992817del | GRCh38 |
| NC_000005.9:g.177419817_177419818del , CM000667.1:g.177419817_177419818del | GRCh37 |
| NC_000005.8:g.177352423_177352424del | NCBI36 |
| NG_015889.1:g.8426_8427del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.573_574del MANE Select | ENSP00000311290.2:p.Glu192GlyfsTer28 | |
| NM_006261.4:c.573_574del | NP_006252.3:p.Glu192GlyfsTer28 | |
| NM_006261.5:c.573_574del MANE Select | NP_006252.4:p.Glu192GlyfsTer28 |