Linked Data
ClinVar Variation Id:
329511
dbSNP Id:
rs776705174
ExAC:
19:45860525 C / CA
gnomAD v2:
19-45860525-C-CA
gnomAD v3:
19-45357267-C-CA
gnomAD v4:
19-45357267-C-CA
MyVariant Identifiers:
chr19:g.45860526dupA (hg19)
chr19:g.45860525_45860526insA (hg19)
chr19:g.45357268dupA (hg38)
chr19:g.45357267_45357268insA (hg38)
PubMed:
PMID:7920640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45357268dup , CM000681.2:g.45357268dup | GRCh38 |
| NC_000019.9:g.45860526dup , CM000681.1:g.45860526dup | GRCh37 |
| NC_000019.8:g.50552366dup | NCBI36 |
| NG_007067.2:g.18320dup , LRG_461:g.18320dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1479+2dup | ENSP00000375808.4:n.1479+2dup | |
| ENST00000682414.1:c.1479+2dup | ENSP00000507019.1:n.1479+2dup | |
| ENST00000682508.1:n.1508+2dup | ||
| ENST00000684218.1:c.*737+2dup | ENSP00000507804.1:n.*737+2dup | |
| ENST00000684264.1:n.1035+2dup | ||
| ENST00000684407.1:c.1356+2dup | ENSP00000507775.1:n.1356+2dup | |
| ENST00000684458.1:c.*29+2dup | ENSP00000508260.1:n.*29+2dup | |
| ENST00000684468.1:n.1255+2dup | ||
| ENST00000391945.10:c.1479+2dup MANE Select | ENSP00000375809.4:n.1479+2dup | |
| ENST00000587376.6:c.602+2dup | ||
| ENST00000646507.1:n.1576+2dup | ||
| ENST00000391941.6:c.1407+2dup | ENSP00000375805.2:n.1407+2dup | |
| ENST00000391942.6:n.650+2dup | ||
| ENST00000391944.7:c.1245+2dup | ENSP00000375808.3:n.1245+2dup | |
| ENST00000391945.8:c.1479+2dup | ENSP00000375809.3:n.1479+2dup | |
| ENST00000587376.5:c.602+2dup | ||
| ENST00000588652.5:n.1567+2dup | ||
| NM_000400.3:c.1479+2dup , LRG_461t1:c.1479+2dup | NP_000391.1:n.1479+2dup | |
| XM_011526611.1:c.1401+2dup | XP_011524913.1:n.1401+2dup | |
| XR_935763.1:n.1526+2dup | ||
| XM_011526611.2:c.1401+2dup | XP_011524913.1:n.1401+2dup | |
| XM_017026467.1:c.1356+2dup | XP_016881956.1:n.1356+2dup | |
| XR_001753633.2:n.1526+2dup | ||
| XR_001753634.2:n.1526+2dup | ||
| NM_000400.4:c.1479+2dup MANE Select | NP_000391.1:n.1479+2dup |