Linked Data
ClinVar Variation Id:
161742
ClinVar RCV Id:
RCV000149278
dbSNP Id:
rs193920868
COSMIC:
COSM1179906
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.167869582del , CM000664.2:g.167869582del | GRCh38 |
| NC_000002.11:g.168726092del , CM000664.1:g.168726092del | GRCh37 |
| NC_000002.10:g.168434338del | NCBI36 |
| NG_050644.1:g.581522del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392690.4:c.543del (B3GALT1) MANE Select | ENSP00000376456.2:p.Phe181LeufsTer2 | |
| ENST00000392690.3:c.543del (B3GALT1) | ENSP00000376456.2:p.Phe181LeufsTer2 | |
| NM_020981.3:c.543del (B3GALT1) | NP_066191.1:p.Phe181LeufsTer2 | |
| NR_131227.1:n.328+162del (B3GALT1-AS1) | ||
| XM_005246931.2:c.543del (B3GALT1) | XP_005246988.1:p.Phe181LeufsTer2 | |
| XM_006712819.2:c.543del (B3GALT1) | XP_006712882.1:p.Phe181LeufsTer2 | |
| XM_011512084.1:c.543del (B3GALT1) | XP_011510386.1:p.Phe181LeufsTer2 | |
| XM_011512085.1:c.543del (B3GALT1) | XP_011510387.1:p.Phe181LeufsTer2 | |
| XM_005246931.3:c.543del (B3GALT1) | XP_005246988.1:p.Phe181LeufsTer2 | |
| XM_006712819.3:c.543del (B3GALT1) | XP_006712882.1:p.Phe181LeufsTer2 | |
| XM_011512085.2:c.543del (B3GALT1) | XP_011510387.1:p.Phe181LeufsTer2 | |
| NM_020981.4:c.543del (B3GALT1) MANE Select | NP_066191.1:p.Phe181LeufsTer2 |