Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149579577dup , CM000664.2:g.149579577dup | GRCh38 |
| NC_000002.11:g.150436091dup , CM000664.1:g.150436091dup | GRCh37 |
| NC_000002.10:g.150144337dup | NCBI36 |
| NG_009189.1:g.13242dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.228dup MANE Select | ENSP00000301920.5:p.Asn77GlufsTer5 | |
| ENST00000303319.9:c.228dup | ENSP00000301920.5:p.Asn77GlufsTer5 | |
| ENST00000422782.2:c.228dup | ENSP00000408331.2:p.Asn77GlufsTer5 | |
| ENST00000428879.5:c.228dup | ENSP00000389060.1:p.Asn77GlufsTer5 | |
| NM_015702.2:c.228dup | NP_056517.1:p.Asn77GlufsTer5 | |
| NM_015702.3:c.228dup MANE Select | NP_056517.1:p.Asn77GlufsTer5 |