Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59022915_59022916delinsCC , CM000682.2:g.59022915_59022916delinsCC | GRCh38 |
| NC_000020.10:g.57597970_57597971delinsCC , CM000682.1:g.57597970_57597971delinsCC | GRCh37 |
| NC_000020.9:g.57031365_57031366delinsCC | NCBI36 |
| NG_023424.2:g.8662_8663delinsCC , LRG_581:g.8662_8663delinsCC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030773.4:c.128_129delinsCC MANE Select | NP_110400.1:p.Gln43Pro |
| ENST00000217133.2:c.128_129delinsCC MANE Select | ENSP00000217133.1:p.Gln43Pro |
| NM_030773.3:c.128_129delinsCC , LRG_581t1:c.128_129delinsCC | NP_110400.1:p.Gln43Pro |
| ENST00000217133.1:c.128_129delinsCC | ENSP00000217133.1:p.Gln43Pro |
| XM_017028085.1:c.62_63delinsCC | XP_016883574.1:p.Gln21Pro |