Linked Data
ClinVar Variation Id:
2744917
ClinVar RCV Id:
RCV003565844
dbSNP Id:
rs1300454570
gnomAD v3:
15-71811774-T-TG
gnomAD v4:
15-71811774-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811779dup , CM000677.2:g.71811779dup | GRCh38 |
| NC_000015.9:g.72104119dup , CM000677.1:g.72104119dup | GRCh37 |
| NC_000015.8:g.69891173dup | NCBI36 |
| NG_009113.2:g.6225dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.259dup MANE Select | ENSP00000482504.1:p.Ala87GlyfsTer? | |
| ENST00000617575.4:c.259dup | ENSP00000482504.1:p.Ala87GlyfsTer? | |
| ENST00000621098.1:c.259dup | ENSP00000479962.1:p.Ala87GlyfsTer? | |
| ENST00000621736.4:c.-6dup | ENSP00000479254.1:n.-6dup | |
| NM_014249.3:c.259dup | NP_055064.1:p.Ala87GlyfsTer? | |
| NM_016346.3:c.259dup | NP_057430.1:p.Ala87GlyfsTer? | |
| XM_011521146.1:c.-6dup | XP_011519448.1:n.-6dup | |
| NM_014249.4:c.259dup MANE Select | NP_055064.1:p.Ala87GlyfsTer? | |
| NM_016346.4:c.259dup | NP_057430.1:p.Ala87GlyfsTer? |