Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103543426_103543427delinsCC , CM000663.2:g.103543426_103543427delinsCC | GRCh38 |
| NC_000001.10:g.104086048_104086049delinsCC , CM000663.1:g.104086048_104086049delinsCC | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423855.7:c.1024_1025delinsCC MANE Select | ENSP00000391432.1:p.Asn342Pro | |
| ENST00000423855.6:c.1024_1025delinsCC | ENSP00000391432.1:p.Asn342Pro | |
| ENST00000524631.5:c.1021_1022delinsCC | ENSP00000437278.1:p.Asn341Pro | |
| ENST00000524641.1:c.246_247delinsCC | ||
| ENST00000533099.5:c.1024_1025delinsCC | ENSP00000432886.1:p.Asn342Pro | |
| ENST00000533834.1:n.351_352delinsCC | ||
| NM_017619.3:c.1024_1025delinsCC | NP_060089.1:p.Asn342Pro | |
| NM_017619.4:c.1024_1025delinsCC MANE Select | NP_060089.1:p.Asn342Pro |