Linked Data
ClinVar Variation Id:
256023
dbSNP Id:
rs766117419
ExAC:
19:45867216 T / TG
gnomAD v2:
19-45867216-T-TG
gnomAD v3:
19-45363958-T-TG
gnomAD v4:
19-45363958-T-TG
MyVariant Identifiers:
chr19:g.45867217dupG (hg19)
chr19:g.45867222_45867223insG (hg19)
chr19:g.45867217_45867218insG (hg19)
chr19:g.45867216_45867217insG (hg19)
chr19:g.45363959dupG (hg38)
chr19:g.45363964_45363965insG (hg38)
chr19:g.45363959_45363960insG (hg38)
chr19:g.45363958_45363959insG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45363964dup , CM000681.2:g.45363964dup | GRCh38 |
| NC_000019.9:g.45867222dup , CM000681.1:g.45867222dup | GRCh37 |
| NC_000019.8:g.50559062dup | NCBI36 |
| NG_007067.2:g.11629dup , LRG_461:g.11629dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.949+27dup | ENSP00000375808.4:n.949+27dup | |
| ENST00000682414.1:c.949+27dup | ENSP00000507019.1:n.949+27dup | |
| ENST00000682508.1:n.978+27dup | ||
| ENST00000684218.1:c.*207+27dup | ENSP00000507804.1:n.*207+27dup | |
| ENST00000684407.1:c.826+27dup | ENSP00000507775.1:n.826+27dup | |
| ENST00000684458.1:c.949+27dup | ENSP00000508260.1:n.949+27dup | |
| ENST00000391945.10:c.949+27dup MANE Select | ENSP00000375809.4:n.949+27dup | |
| ENST00000587376.6:c.72+27dup | ||
| ENST00000646507.1:n.1046+27dup | ||
| ENST00000391941.6:c.877+27dup | ENSP00000375805.2:n.877+27dup | |
| ENST00000391944.7:c.715+27dup | ENSP00000375808.3:n.715+27dup | |
| ENST00000391945.8:c.949+27dup | ENSP00000375809.3:n.949+27dup | |
| ENST00000485403.6:c.877+27dup | ENSP00000431229.2:n.877+27dup | |
| ENST00000587376.5:c.72+27dup | ||
| NM_000400.3:c.949+27dup , LRG_461t1:c.949+27dup | NP_000391.1:n.949+27dup | |
| NM_001130867.1:c.877+27dup | NP_001124339.1:n.877+27dup | |
| XM_011526611.1:c.871+27dup | XP_011524913.1:n.871+27dup | |
| XR_935763.1:n.996+27dup | ||
| XM_011526611.2:c.871+27dup | XP_011524913.1:n.871+27dup | |
| XM_017026467.1:c.826+27dup | XP_016881956.1:n.826+27dup | |
| XR_001753633.2:n.996+27dup | ||
| XR_001753634.2:n.996+27dup | ||
| NM_000400.4:c.949+27dup MANE Select | NP_000391.1:n.949+27dup | |
| NM_001130867.2:c.877+27dup | NP_001124339.1:n.877+27dup |