Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308365_30308366dup , CM000685.2:g.30308365_30308366dup | GRCh38 |
| NC_000023.10:g.30326482_30326483dup , CM000685.1:g.30326482_30326483dup | GRCh37 |
| NC_000023.9:g.30236403_30236404dup | NCBI36 |
| NG_009814.1:g.6014_6015dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.999_1000dup MANE Select | ENSP00000368253.4:p.Leu334HisfsTer? | |
| ENST00000378963.1:c.114_115dup | ENSP00000368246.1:p.Leu39HisfsTer? | |
| ENST00000378970.4:c.999_1000dup | ENSP00000368253.4:p.Leu334HisfsTer? | |
| NM_000475.4:c.999_1000dup | NP_000466.2:p.Leu334HisfsTer? | |
| NM_000475.5:c.999_1000dup MANE Select | NP_000466.2:p.Leu334HisfsTer? |