Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107786847_107786849dup , CM000669.2:g.107786847_107786849dup | GRCh38 |
| NC_000007.13:g.107427292_107427294dup , CM000669.1:g.107427292_107427294dup | GRCh37 |
| NC_000007.12:g.107214528_107214530dup | NCBI36 |
| NG_008046.1:g.21387_21389dup , LRG_683:g.21387_21389dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000111.3:c.951_953dup MANE Select | NP_000102.1:p.Val318_Gly319insVal |
| ENST00000340010.10:c.951_953dup MANE Select | ENSP00000345873.5:p.Val318_Gly319insVal |
| NM_000111.2:c.951_953dup , LRG_683t1:c.951_953dup | NP_000102.1:p.Val318_Gly319insVal |
| ENST00000340010.9:c.951_953dup | ENSP00000345873.5:p.Val318_Gly319insVal |
| ENST00000379083.7:c.*742_*744dup | ENSP00000368375.3:n.*742_*744dup |
| ENST00000468551.1:n.229_231dup | |
| XM_011515867.1:c.951_953dup | XP_011514169.1:p.Val318_Gly319insVal |