Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188996502_188996503insGC , CM000664.2:g.188996502_188996503insGC | GRCh38 |
| NC_000002.11:g.189861228_189861229insGC , CM000664.1:g.189861228_189861229insGC | GRCh37 |
| NC_000002.10:g.189569473_189569474insGC | NCBI36 |
| NG_007404.1:g.27130_27131insGC , LRG_3:g.27130_27131insGC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.4:c.1761+6_1761+7insGC MANE Select | NP_000081.2:n.1761+6_1761+7insGC |
| ENST00000304636.9:c.1761+6_1761+7insGC MANE Select | ENSP00000304408.4:n.1761+6_1761+7insGC |
| NM_000090.3:c.1761+6_1761+7insGC , LRG_3t1:c.1761+6_1761+7insGC | NP_000081.1:n.1761+6_1761+7insGC |
| ENST00000304636.7:c.1761+6_1761+7insGC | ENSP00000304408.3:n.1761+6_1761+7insGC |
| ENST00000317840.9:c.1761+6_1761+7insGC | ENSP00000315243.6:n.1761+6_1761+7insGC |
| ENST00000450867.2:c.1662+6_1662+7insGC | ENSP00000415346.2:n.1662+6_1662+7insGC |