Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767650_28767668delinsTGGGCGGCAAGGGCGAGCC , CM000676.2:g.28767650_28767668delinsTGGGCGGCAAGGGCGAGCC | GRCh38 |
| NC_000014.8:g.29236856_29236874delinsTGGGCGGCAAGGGCGAGCC , CM000676.1:g.29236856_29236874delinsTGGGCGGCAAGGGCGAGCC | GRCh37 |
| NC_000014.7:g.28306607_28306625delinsTGGGCGGCAAGGGCGAGCC | NCBI36 |
| NG_009367.1:g.5570_5588delinsTGGGCGGCAAGGGCGAGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.371_389delinsTGGGCGGCAAGGGCGAGCC | ENSP00000516406.1:p.Leu124= | |
| ENST00000313071.7:c.371_389delinsTGGGCGGCAAGGGCGAGCC MANE Select | ENSP00000339004.3:p.Leu124= | |
| ENST00000313071.6:c.371_389delinsTGGGCGGCAAGGGCGAGCC | ENSP00000339004.3:p.Leu124= | |
| NM_005249.4:c.371_389delinsTGGGCGGCAAGGGCGAGCC | NP_005240.3:p.Leu124= | |
| NM_005249.5:c.371_389delinsTGGGCGGCAAGGGCGAGCC MANE Select | NP_005240.3:p.Leu124= |