Linked Data
ClinVar Variation Id:
420219
ClinVar RCV Id:
RCV000482536
dbSNP Id:
rs1555551738
gnomAD v3:
16-88715673-A-ACAACT
gnomAD v4:
16-88715673-A-ACAACT
MyVariant Identifiers:
chr16:g.88782082_88782086dupCAACT (hg19)
chr16:g.88715674_88715678dupCAACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88715675_88715679dup , CM000678.2:g.88715675_88715679dup | GRCh38 |
| NC_000016.9:g.88782083_88782087dup , CM000678.1:g.88782083_88782087dup | GRCh37 |
| NC_000016.8:g.87309584_87309588dup | NCBI36 |
| NG_042229.1:g.74543_74547dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.7493_7497dup MANE Select | ENSP00000301015.9:p.Tyr2500SerfsTer16 | |
| ENST00000484567.6:n.2552_2556dup | ||
| ENST00000518793.6:c.325_329dup | ||
| ENST00000301015.13:c.7493_7497dup | ENSP00000301015.9:p.Tyr2500SerfsTer16 | |
| ENST00000327397.8:c.1059_1063dup | ENSP00000333704.7:p.Val355GlufsTer25 | |
| ENST00000419505.5:c.1300_1304dup | ENSP00000406358.1:n.1300_1304dup | |
| ENST00000484567.5:n.2129_2133dup | ||
| ENST00000518793.5:c.325_329dup | ||
| ENST00000521877.1:n.457_461dup | ||
| NM_001142864.2:c.7493_7497dup | NP_001136336.2:p.Tyr2500SerfsTer16 | |
| NM_001142864.3:c.7493_7497dup | NP_001136336.2:p.Tyr2500SerfsTer16 | |
| NM_001142864.4:c.7493_7497dup MANE Select | NP_001136336.2:p.Tyr2500SerfsTer16 |