Linked Data
ClinVar Variation Id:
2194082
ClinVar RCV Id:
RCV002612411
dbSNP Id:
rs1392853698
gnomAD v2:
19-46269733-T-TGCAGGGGCCCCACAGCCTGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766482_45766502dup , CM000681.2:g.45766482_45766502dup | GRCh38 |
| NC_000019.9:g.46269740_46269760dup , CM000681.1:g.46269740_46269760dup | GRCh37 |
| NC_000019.8:g.50961580_50961600dup | NCBI36 |
| NG_012745.1:g.7744_7764dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1463_1483dup MANE Select | ENSP00000316842.4:p.Leu494_Gln495insProGlnAlaValGlyProLeu | |
| ENST00000317578.6:c.1463_1483dup | ENSP00000316842.4:p.Leu494_Gln495insProGlnAlaValGlyProLeu | |
| ENST00000560160.1:c.587-385_587-365dup | ||
| ENST00000560168.1:c.*651_*671dup | ENSP00000453189.2:n.*651_*671dup | |
| ENST00000622857.1:c.16-534_16-514dup | ENSP00000481365.1:n.16-534_16-514dup | |
| NM_175875.4:c.1463_1483dup | NP_787071.2:p.Leu494_Gln495insProGlnAlaValGlyProLeu | |
| NM_175875.5:c.1463_1483dup MANE Select | NP_787071.3:p.Leu494_Gln495insProGlnAlaValGlyProLeu |