ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149582149dup , CM000664.2:g.149582149dup | GRCh38 |
| NC_000002.11:g.150438663dup , CM000664.1:g.150438663dup | GRCh37 |
| NC_000002.10:g.150146909dup | NCBI36 |
| NG_009189.1:g.10669dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.133dup MANE Select | ENSP00000301920.5:p.Ala45GlyfsTer15 | |
| ENST00000303319.9:c.133dup | ENSP00000301920.5:p.Ala45GlyfsTer15 | |
| ENST00000422782.2:c.133dup | ENSP00000408331.2:p.Ala45GlyfsTer15 | |
| ENST00000428879.5:c.133dup | ENSP00000389060.1:p.Ala45GlyfsTer15 | |
| NM_015702.2:c.133dup | NP_056517.1:p.Ala45GlyfsTer15 | |
| NM_015702.3:c.133dup MANE Select | NP_056517.1:p.Ala45GlyfsTer15 |