Linked Data
ClinVar Variation Id:
65389
dbSNP Id:
rs606231383
gnomAD v2:
19-18979615-C-CG
gnomAD v3:
19-18868806-C-CG
gnomAD v4:
19-18868806-C-CG
MyVariant Identifiers:
chr19:g.18979616dupG (hg19)
chr19:g.18979615_18979616insG (hg19)
chr19:g.18868807dupG (hg38)
chr19:g.18868806_18868807insG (hg38)
PubMed:
PMID:20413652
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18868809dup , CM000681.2:g.18868809dup | GRCh38 |
| NC_000019.9:g.18979618dup , CM000681.1:g.18979618dup | GRCh37 |
| NC_000019.8:g.18840618dup | NCBI36 |
| NG_012070.1:g.32338dup | |
| NG_033056.1:g.32338dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623882.4:c.*1178dup (CERS1) MANE Select | ENSP00000485308.1:n.*1178dup | |
| ENST00000247005.8:c.909dup (GDF1) MANE Select | ENSP00000247005.5:p.Val304ArgfsTer? | |
| ENST00000247005.7:c.909dup (GDF1) | ENSP00000247005.5:p.Val304ArgfsTer? | |
| ENST00000623882.3:c.*1178dup (CERS1) | ENSP00000485308.1:n.*1178dup | |
| ENST00000623927.1:c.909dup (CERS1) | ENSP00000485582.1:p.Val304ArgfsTer? | |
| NM_001492.5:c.909dup (GDF1) | NP_001483.3:p.Val304ArgfsTer? | |
| NM_021267.4:c.*1178dup (CERS1) | NP_067090.1:n.*1178dup | |
| NM_001492.6:c.909dup (GDF1) MANE Select | NP_001483.3:p.Val304ArgfsTer? | |
| NM_021267.5:c.*1178dup (CERS1) MANE Select | NP_067090.1:n.*1178dup | |
| NM_001387438.1:c.909dup (GDF1) | NP_001374367.1:p.Val304ArgfsTer? | |
| NM_001387440.1:c.*1770dup (CERS1) | NP_001374369.1:n.*1770dup |