Linked Data
ClinVar Variation Id:
3768
ClinVar RCV Id:
RCV000003966
dbSNP Id:
rs796051859
gnomAD v4:
10-125798142-T-TC
MyVariant Identifiers:
chr10:g.127486712dupC (hg19)
chr10:g.127486711_127486712insC (hg19)
chr10:g.125798143dupC (hg38)
chr10:g.125798142_125798143insC (hg38)
PubMed:
PMID:11254675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125798146dup , CM000672.2:g.125798146dup | GRCh38 |
| NC_000010.10:g.127486715dup , CM000672.1:g.127486715dup | GRCh37 |
| NC_000010.9:g.127476705dup | NCBI36 |
| NG_011557.1:g.30126dup | |
| NG_011557.2:g.30126dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713579.1:c.397dup | ||
| ENST00000368797.10:c.397dup | ||
| ENST00000465577.6:c.74dup | ||
| ENST00000648119.1:c.397dup | ||
| ENST00000648427.1:c.*52dup | ||
| ENST00000649275.1:c.326dup | ||
| ENST00000649450.1:n.434dup | ||
| ENST00000649536.1:c.395-1955dup | ENSP00000497817.1:n.395-1955dup | |
| ENST00000650185.1:c.180dup | ||
| ENST00000650472.1:n.2553dup | ||
| ENST00000650524.1:c.238dup | ||
| ENST00000650587.1:c.397dup | ||
| ENST00000368786.5:c.397dup | ||
| ENST00000368797.8:c.397dup | ||
| ENST00000420761.5:c.313dup | ||
| ENST00000462490.5:c.56dup | ||
| NM_000375.2:c.397dup | ||
| XM_005270137.2:c.397dup | ||
| XM_005270138.2:c.395-1955dup | XP_005270195.1:n.395-1955dup | |
| XM_005270139.2:c.397dup | ||
| XM_005270140.3:c.397dup | ||
| XM_006717960.2:c.397dup | ||
| XM_011540126.1:c.397dup | ||
| XM_011540127.1:c.397dup | ||
| XR_246103.2:n.505dup | ||
| XR_945809.1:n.505dup | ||
| XR_945810.1:n.505dup | ||
| NM_000375.3:c.397dup | ||
| NM_001324036.1:c.397dup | ||
| NM_001324037.1:c.395-1955dup | NP_001310966.1:n.395-1955dup | |
| NM_001324038.1:c.395-1955dup | NP_001310967.1:n.395-1955dup | |
| NR_136675.1:n.482dup | ||
| NR_136676.1:n.663dup | ||
| NR_136677.1:n.663dup | ||
| NR_136678.1:n.393dup | ||
| XM_005270140.5:c.397dup | ||
| XM_011540127.2:c.397dup | ||
| XM_017016611.2:c.397dup | ||
| XM_017016612.2:c.397dup | ||
| XM_024448154.1:c.397dup | ||
| XM_024448155.1:c.395-1955dup | XP_024303923.1:n.395-1955dup | |
| XR_001747196.2:n.520dup | ||
| XR_001747197.2:n.520dup | ||
| XR_002957009.1:n.520dup | ||
| XR_002957010.1:n.461dup | ||
| XR_246103.3:n.520dup | ||
| XR_945810.2:n.520dup | ||
| NM_001324036.2:c.397dup | ||
| NM_001324037.2:c.395-1955dup | NP_001310966.1:n.395-1955dup | |
| NM_001324038.2:c.395-1955dup | NP_001310967.1:n.395-1955dup | |
| NR_136675.2:n.472dup | ||
| NR_136676.2:n.653dup | ||
| NR_136678.2:n.383dup | ||
| NR_136677.2:n.653dup |