Linked Data
ClinVar Variation Id:
251379
ClinVar RCV Id:
RCV000237733
dbSNP Id:
rs1555803423
gnomAD v2:
19-11216255-A-AAATCTGAC
gnomAD v3:
19-11105579-A-AAATCTGAC
gnomAD v4:
19-11105579-A-AAATCTGAC
MyVariant Identifiers:
chr19:g.11216256_11216263dupAATCTGAC (hg19)
chr19:g.11216263_11216264insAATCTGAC (hg19)
chr19:g.11216255_11216256insAATCTGAC (hg19)
chr19:g.11105580_11105587dupAATCTGAC (hg38)
chr19:g.11105587_11105588insAATCTGAC (hg38)
chr19:g.11105579_11105580insAATCTGAC (hg38)
PubMed:
PMID:8792825
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105580_11105587dup , CM000681.2:g.11105580_11105587dup | GRCh38 |
| NC_000019.9:g.11216256_11216263dup , CM000681.1:g.11216256_11216263dup | GRCh37 |
| NC_000019.8:g.11077256_11077263dup | NCBI36 |
| NG_009060.1:g.21200_21207dup , LRG_274:g.21200_21207dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.932_939dup | ENSP00000252444.6:p.Glu314AsnfsTer? | |
| ENST00000559340.2:c.674_681dup | ENSP00000453696.2:p.Glu228AsnfsTer? | |
| ENST00000560467.2:c.674_681dup | ENSP00000453513.2:p.Glu228AsnfsTer? | |
| ENST00000558518.6:c.674_681dup MANE Select | ENSP00000454071.1:p.Glu228AsnfsTer? | |
| ENST00000252444.9:c.928_935dup | ||
| ENST00000455727.6:c.314-1812_314-1805dup | ENSP00000397829.2:n.314-1812_314-1805dup | |
| ENST00000535915.5:c.551_558dup | ENSP00000440520.1:p.Glu187AsnfsTer? | |
| ENST00000545707.5:c.314-985_314-978dup | ENSP00000437639.1:n.314-985_314-978dup | |
| ENST00000557933.5:c.674_681dup | ENSP00000453557.1:p.Glu228AsnfsTer? | |
| ENST00000558013.5:c.674_681dup | ENSP00000453346.1:p.Glu228AsnfsTer? | |
| ENST00000558518.5:c.674_681dup | ENSP00000454071.1:p.Glu228AsnfsTer? | |
| ENST00000560467.1:c.274_281dup | ||
| NM_000527.4:c.674_681dup , LRG_274t1:c.674_681dup | NP_000518.1:p.Glu228AsnfsTer? | |
| NM_001195798.1:c.674_681dup | NP_001182727.1:p.Glu228AsnfsTer? | |
| NM_001195799.1:c.551_558dup | NP_001182728.1:p.Glu187AsnfsTer? | |
| NM_001195800.1:c.314-1812_314-1805dup | NP_001182729.1:n.314-1812_314-1805dup | |
| NM_001195803.1:c.314-985_314-978dup | NP_001182732.1:n.314-985_314-978dup | |
| XM_011528010.1:c.674_681dup | XP_011526312.1:p.Glu228AsnfsTer? | |
| XM_011528011.1:c.314-985_314-978dup | XP_011526313.1:n.314-985_314-978dup | |
| XR_244074.2:n.824_831dup | ||
| XM_011528010.2:c.674_681dup | XP_011526312.1:p.Glu228AsnfsTer? | |
| XR_001753685.2:n.791_798dup | ||
| XR_001753686.2:n.791_798dup | ||
| NM_000527.5:c.674_681dup MANE Select | NP_000518.1:p.Glu228AsnfsTer? | |
| NM_001195798.2:c.674_681dup | NP_001182727.1:p.Glu228AsnfsTer? | |
| NM_001195799.2:c.551_558dup | NP_001182728.1:p.Glu187AsnfsTer? | |
| NM_001195800.2:c.314-1812_314-1805dup | NP_001182729.1:n.314-1812_314-1805dup | |
| NM_001195803.2:c.314-985_314-978dup | NP_001182732.1:n.314-985_314-978dup |