Linked Data
ClinVar Variation Id:
370302
ClinVar RCV Id:
RCV000411348
dbSNP Id:
rs754214624
ExAC:
3:165547794 G / GT
gnomAD v2:
3-165547794-G-GT
gnomAD v3:
3-165830006-G-GT
gnomAD v4:
3-165830006-G-GT
COSMIC:
COSM1420407
MyVariant Identifiers:
chr3:g.165547795dupT (hg19)
chr3:g.165547794_165547795insT (hg19)
chr3:g.165830007dupT (hg38)
chr3:g.165830006_165830007insT (hg38)
PubMed:
PMID:8680411
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830013dup , CM000665.2:g.165830013dup | GRCh38 |
| NC_000003.11:g.165547801dup , CM000665.1:g.165547801dup | GRCh37 |
| NC_000003.10:g.167030495dup | NCBI36 |
| NG_009031.1:g.12459dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.1027dup MANE Select | ENSP00000264381.3:p.Thr343AsnfsTer8 | |
| ENST00000264381.7:c.1027dup | ENSP00000264381.3:p.Thr343AsnfsTer8 | |
| ENST00000479451.5:c.107+7307dup | ENSP00000418325.1:n.107+7307dup | |
| ENST00000482958.1:c.1027dup | ENSP00000419804.1:p.Thr343AsnfsTer8 | |
| ENST00000488954.1:c.107+7307dup | ENSP00000418504.1:n.107+7307dup | |
| ENST00000497011.5:c.1027dup | ENSP00000419505.1:p.Thr343AsnfsTer8 | |
| NM_000055.2:c.1027dup | NP_000046.1:p.Thr343AsnfsTer8 | |
| XM_005247685.1:c.1150dup | XP_005247742.1:p.Thr384AsnfsTer8 | |
| NM_000055.3:c.1027dup | NP_000046.1:p.Thr343AsnfsTer8 | |
| NR_137635.1:n.159+7307dup | ||
| NR_137636.1:n.1194dup | ||
| NM_000055.4:c.1027dup MANE Select | NP_000046.1:p.Thr343AsnfsTer8 | |
| NR_137635.2:n.110+7307dup | ||
| NR_137636.2:n.1145dup |