Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739813_86739814insAGTC , CM000670.2:g.86739813_86739814insAGTC | GRCh38 |
| NC_000008.10:g.87752041_87752042insAGTC , CM000670.1:g.87752041_87752042insAGTC | GRCh37 |
| NC_000008.9:g.87821157_87821158insAGTC | NCBI36 |
| NG_016980.1:g.8862_8863insGACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-78_130-77insGACT MANE Select | ENSP00000316605.5:n.130-78_130-77insGACT | |
| ENST00000681746.1:c.130-78_130-77insGACT | ENSP00000505959.1:n.130-78_130-77insGACT | |
| ENST00000320005.5:c.130-78_130-77insGACT | ENSP00000316605.5:n.130-78_130-77insGACT | |
| ENST00000519777.1:n.112-78_112-77insGACT | ||
| NM_019098.4:c.130-78_130-77insGACT | NP_061971.3:n.130-78_130-77insGACT | |
| NM_019098.5:c.130-78_130-77insGACT MANE Select | NP_061971.3:n.130-78_130-77insGACT |