Linked Data
ClinVar Variation Id:
370388
ClinVar RCV Id:
RCV000410462
dbSNP Id:
rs1057516450
gnomAD v4:
3-165829960-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829966dup , CM000665.2:g.165829966dup | GRCh38 |
| NC_000003.11:g.165547754dup , CM000665.1:g.165547754dup | GRCh37 |
| NC_000003.10:g.167030448dup | NCBI36 |
| NG_009031.1:g.12505dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.1073dup MANE Select | ENSP00000264381.3:p.Leu358PhefsTer12 | |
| ENST00000264381.7:c.1073dup | ENSP00000264381.3:p.Leu358PhefsTer12 | |
| ENST00000479451.5:c.107+7353dup | ENSP00000418325.1:n.107+7353dup | |
| ENST00000482958.1:c.1073dup | ENSP00000419804.1:p.Leu358PhefsTer12 | |
| ENST00000488954.1:c.107+7353dup | ENSP00000418504.1:n.107+7353dup | |
| ENST00000497011.5:c.1073dup | ENSP00000419505.1:p.Leu358PhefsTer12 | |
| NM_000055.2:c.1073dup | NP_000046.1:p.Leu358PhefsTer12 | |
| XM_005247685.1:c.1196dup | XP_005247742.1:p.Leu399PhefsTer12 | |
| NM_000055.3:c.1073dup | NP_000046.1:p.Leu358PhefsTer12 | |
| NR_137635.1:n.159+7353dup | ||
| NR_137636.1:n.1240dup | ||
| NM_000055.4:c.1073dup MANE Select | NP_000046.1:p.Leu358PhefsTer12 | |
| NR_137635.2:n.110+7353dup | ||
| NR_137636.2:n.1191dup |