Linked Data
ClinVar Variation Id:
492978
ClinVar RCV Id:
RCV000584792
dbSNP Id:
rs1554708715
PubMed:
PMID:28375157
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99227903_99227904dup , CM000671.2:g.99227903_99227904dup | GRCh38 |
| NC_000009.11:g.101990185_101990186dup , CM000671.1:g.101990185_101990186dup | GRCh37 |
| NC_000009.10:g.101030006_101030007dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223641.5:c.106_107dup MANE Select | ENSP00000223641.4:p.Asn36LysfsTer? | |
| ENST00000223641.4:c.106_107dup | ENSP00000223641.4:p.Asn36LysfsTer? | |
| ENST00000498603.5:c.-57_-56dup | ENSP00000474122.1:n.-57_-56dup | |
| NM_006808.2:c.106_107dup | NP_006799.1:p.Asn36LysfsTer? | |
| NM_006808.3:c.106_107dup MANE Select | NP_006799.1:p.Asn36LysfsTer? |