MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232540662_232540670dup , CM000664.2:g.232540662_232540670dup | GRCh38 |
| NC_000002.11:g.233405372_233405380dup , CM000664.1:g.233405372_233405380dup | GRCh37 |
| NC_000002.10:g.233113616_233113624dup | NCBI36 |
| NG_012954.1:g.5936_5944dup | |
| NG_012954.2:g.5971_5979dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.301_309dup MANE Select | ENSP00000498757.1:p.Pro103_Ser104insArgValPro | |
| ENST00000389492.3:c.301_309dup | ENSP00000374143.3:p.Pro103_Ser104insArgValPro | |
| ENST00000389494.7:c.301_309dup | ENSP00000374145.3:p.Pro103_Ser104insArgValPro | |
| ENST00000485094.1:n.322_330dup | ||
| NM_005199.4:c.301_309dup | NP_005190.4:p.Pro103_Ser104insArgValPro | |
| NM_005199.5:c.301_309dup MANE Select | NP_005190.4:p.Pro103_Ser104insArgValPro |