Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958475_150958503dup , CM000669.2:g.150958475_150958503dup | GRCh38 |
| NC_000007.13:g.150655563_150655591dup , CM000669.1:g.150655563_150655591dup | GRCh37 |
| NC_000007.12:g.150286496_150286524dup | NCBI36 |
| NG_008916.1:g.24425_24453dup , LRG_288:g.24425_24453dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.1306_1334dup | ||
| ENST00000262186.10:c.473_501dup | ||
| ENST00000262186.9:c.473_501dup | ||
| ENST00000430723.4:c.235-110_235-82dup | ENSP00000387657.4:n.235-110_235-82dup | |
| ENST00000532957.5:n.696_724dup | ||
| NM_000238.3:c.473_501dup , LRG_288t1:c.473_501dup | ||
| NM_172056.2:c.473_501dup , LRG_288t2:c.473_501dup | ||
| XM_011516185.1:c.173_201dup | ||
| XM_011516186.1:c.473_501dup | ||
| XM_011516185.2:c.173_201dup | ||
| XM_011516186.3:c.473_501dup | ||
| XM_017012195.1:c.323_351dup | ||
| XM_017012196.1:c.296_324dup | ||
| NM_000238.4:c.473_501dup |