Linked Data
ClinVar Variation Id:
2626574
ClinVar RCV Id:
RCV003384114
dbSNP Id:
rs1568858517
gnomAD v2:
19-55666145-G-GT
gnomAD v4:
19-55154777-G-GT
MyVariant Identifiers:
chr19:g.55666145_55666146insT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154778dup , CM000681.2:g.55154778dup | GRCh38 |
| NC_000019.9:g.55666146dup , CM000681.1:g.55666146dup | GRCh37 |
| NC_000019.8:g.60357958dup | NCBI36 |
| NG_007866.2:g.7955dup , LRG_432:g.7955dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.335dup MANE Select | ENSP00000341838.5:p.Tyr112Ter | |
| ENST00000665070.1:c.335dup | ENSP00000499482.1:p.Tyr112Ter | |
| ENST00000344887.9:c.335dup | ENSP00000341838.5:p.Tyr112Ter | |
| ENST00000585806.5:n.334dup | ||
| ENST00000586669.5:n.343dup | ||
| ENST00000587176.5:n.519dup | ||
| ENST00000587871.1:c.954dup | ||
| ENST00000588882.1:c.260dup | ENSP00000466729.1:p.Tyr87Ter | |
| ENST00000590463.1:n.507dup | ||
| NM_000363.4:c.335dup , LRG_432t1:c.335dup | NP_000354.4:p.Tyr112Ter | |
| NM_000363.5:c.335dup MANE Select | NP_000354.4:p.Tyr112Ter |