Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527563dup , CM000681.2:g.7527563dup | GRCh38 |
| NC_000019.9:g.7592449dup , CM000681.1:g.7592449dup | GRCh37 |
| NC_000019.8:g.7498449dup | NCBI36 |
| NG_015806.1:g.9954dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.615dup MANE Select | ENSP00000264079.5:p.Ser206GlnfsTer? | |
| ENST00000264079.10:c.615dup | ENSP00000264079.5:p.Ser206GlnfsTer? | |
| ENST00000394321.9:n.695dup | ||
| ENST00000598406.1:n.436dup | ||
| ENST00000601003.1:c.572-301dup | ENSP00000469074.1:n.572-301dup | |
| NM_020533.2:c.615dup | NP_065394.1:p.Ser206GlnfsTer? | |
| NM_020533.3:c.615dup MANE Select | NP_065394.1:p.Ser206GlnfsTer? |