Linked Data
ClinVar Variation Id:
314617
ClinVar RCV Id:
RCV000337574
dbSNP Id:
rs200856836
gnomAD v2:
14-77975688-T-TCCA
gnomAD v3:
14-77509345-T-TCCA
gnomAD v4:
14-77509345-T-TCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77509347_77509349dup , CM000676.2:g.77509347_77509349dup | GRCh38 |
| NC_000014.8:g.77975690_77975692dup , CM000676.1:g.77975690_77975692dup | GRCh37 |
| NC_000014.7:g.77045443_77045445dup | NCBI36 |
| NG_028282.1:g.112420_112422dup , LRG_371:g.112420_112422dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.3657_3659dup | ||
| ENST00000687688.1:n.4388_4390dup | ||
| ENST00000692906.1:n.4357_4359dup | ||
| ENST00000216484.7:c.*2936_*2938dup MANE Select | ENSP00000216484.2:n.*2936_*2938dup | |
| ENST00000216484.6:c.*2936_*2938dup | ENSP00000216484.2:n.*2936_*2938dup | |
| NM_004863.3:c.*2936_*2938dup , LRG_371t1:c.*2936_*2938dup | NP_004854.1:n.*2936_*2938dup | |
| NM_004863.4:c.*2936_*2938dup MANE Select | NP_004854.1:n.*2936_*2938dup |