Linked Data
ClinVar Variation Id:
224334
ClinVar RCV Id:
RCV000416588
dbSNP Id:
rs1057519371
MyVariant Identifiers:
chr17:g.36070585dupG (hg19)
chr17:g.36070584_36070585insG (hg19)
chr17:g.37710577dupG (hg38)
chr17:g.37710576_37710577insG (hg38)
PubMed:
PMID:27657687
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.37710578dup , CM000679.2:g.37710578dup | GRCh38 |
| NC_000017.10:g.36070586dup , CM000679.1:g.36070586dup | GRCh37 |
| NC_000017.9:g.33144699dup | NCBI36 |
| NG_013019.2:g.39530dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617811.5:c.1132dup MANE Select | ENSP00000480291.1:p.Gln378ProfsTer22 | |
| ENST00000613727.4:c.1054dup | ENSP00000477524.1:p.Gln352ProfsTer22 | |
| ENST00000614313.4:c.1132dup | ENSP00000482529.1:p.Gln378ProfsTer22 | |
| ENST00000617272.4:c.1132dup | ENSP00000478682.1:p.Gln378ProfsTer22 | |
| ENST00000617811.4:c.1132dup | ENSP00000480291.1:p.Gln378ProfsTer22 | |
| ENST00000621123.4:c.1054dup | ENSP00000482711.1:p.Gln352ProfsTer22 | |
| NM_000458.3:c.1132dup | NP_000449.1:p.Gln378ProfsTer22 | |
| NM_001165923.3:c.1054dup | NP_001159395.1:p.Gln352ProfsTer22 | |
| NM_001304286.1:c.1054dup | NP_001291215.1:p.Gln352ProfsTer22 | |
| XM_011525160.1:c.1132dup | XP_011523462.1:p.Gln378ProfsTer22 | |
| XM_011525161.1:c.1132dup | XP_011523463.1:p.Gln378ProfsTer22 | |
| XM_011525164.1:c.1054dup | XP_011523466.1:p.Gln352ProfsTer22 | |
| NM_000458.4:c.1132dup MANE Select | NP_000449.1:p.Gln378ProfsTer22 | |
| NM_001165923.4:c.1054dup | NP_001159395.1:p.Gln352ProfsTer22 | |
| NM_001304286.2:c.1054dup | NP_001291215.1:p.Gln352ProfsTer22 |