Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154111dup , CM000681.2:g.55154111dup | GRCh38 |
| NC_000019.9:g.55665479dup , CM000681.1:g.55665479dup | GRCh37 |
| NC_000019.8:g.60357291dup | NCBI36 |
| NG_007866.2:g.8623dup , LRG_432:g.8623dup | |
| NG_011829.2:g.129dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.469dup MANE Select | ENSP00000341838.5:p.Ala157GlyfsTer8 | |
| ENST00000665070.1:c.502dup | ENSP00000499482.1:p.Ala168GlyfsTer8 | |
| ENST00000344887.9:c.469dup | ENSP00000341838.5:p.Ala157GlyfsTer8 | |
| ENST00000585806.5:n.468dup | ||
| ENST00000588882.1:c.394dup | ENSP00000466729.1:p.Ala132GlyfsTer8 | |
| ENST00000589864.1:n.297dup | ||
| NM_000363.4:c.469dup , LRG_432t1:c.469dup | NP_000354.4:p.Ala157GlyfsTer8 | |
| NM_000363.5:c.469dup MANE Select | NP_000354.4:p.Ala157GlyfsTer8 |