Linked Data
ClinVar Variation Id:
1229829
ClinVar RCV Id:
RCV001612177
dbSNP Id:
rs201725709
gnomAD v2:
5-89999430-G-GTGAAGTTTAT
gnomAD v3:
5-90703613-G-GTGAAGTTTAT
gnomAD v4:
5-90703613-G-GTGAAGTTTAT
MyVariant Identifiers:
chr5:g.89999430_89999431insTGAAGTTTAT (hg19)
chr5:g.90703613_90703614insTGAAGTTTAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90703615_90703624dup , CM000667.2:g.90703615_90703624dup | GRCh38 |
| NC_000005.9:g.89999432_89999441dup , CM000667.1:g.89999432_89999441dup | GRCh37 |
| NC_000005.8:g.90035188_90035197dup | NCBI36 |
| NG_007083.1:g.149816_149825dup | |
| NG_007083.2:g.179272_179281dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.8156-50_8156-41dup MANE Select | ENSP00000384582.2:n.8156-50_8156-41dup | |
| ENST00000639431.1:c.265+27406_265+27415dup | ENSP00000491057.1:n.265+27406_265+27415dup | |
| ENST00000639473.1:n.3615-50_3615-41dup | ||
| ENST00000640012.1:c.1963-50_1963-41dup | ||
| ENST00000640374.1:n.1300-50_1300-41dup | ||
| ENST00000640403.1:c.5447-50_5447-41dup | ENSP00000492531.1:n.5447-50_5447-41dup | |
| ENST00000640779.1:c.2885-50_2885-41dup | ||
| ENST00000405460.6:c.8156-50_8156-41dup | ENSP00000384582.2:n.8156-50_8156-41dup | |
| ENST00000509621.1:c.853-50_853-41dup | ||
| NM_032119.3:c.8156-50_8156-41dup | NP_115495.3:n.8156-50_8156-41dup | |
| NR_003149.1:n.8169-50_8169-41dup | ||
| XM_011543675.1:c.8153-50_8153-41dup | XP_011541977.1:n.8153-50_8153-41dup | |
| XM_011543676.1:c.8075-50_8075-41dup | XP_011541978.1:n.8075-50_8075-41dup | |
| XM_011543677.1:c.5459-50_5459-41dup | XP_011541979.1:n.5459-50_5459-41dup | |
| XM_011543678.1:c.8156-50_8156-41dup | XP_011541980.1:n.8156-50_8156-41dup | |
| XM_011543679.1:c.8156-50_8156-41dup | XP_011541981.1:n.8156-50_8156-41dup | |
| NM_032119.4:c.8156-50_8156-41dup MANE Select | NP_115495.3:n.8156-50_8156-41dup | |
| XM_017009963.2:c.8156-50_8156-41dup | XP_016865452.1:n.8156-50_8156-41dup | |
| XM_017009964.2:c.8153-50_8153-41dup | XP_016865453.1:n.8153-50_8153-41dup | |
| XM_017009965.1:c.8153-50_8153-41dup | XP_016865454.1:n.8153-50_8153-41dup | |
| XM_017009966.2:c.8075-50_8075-41dup | XP_016865455.1:n.8075-50_8075-41dup | |
| XM_017009967.1:c.8060-50_8060-41dup | XP_016865456.1:n.8060-50_8060-41dup | |
| XM_017009968.2:c.8156-50_8156-41dup | XP_016865457.1:n.8156-50_8156-41dup | |
| XM_017009969.2:c.8156-50_8156-41dup | XP_016865458.1:n.8156-50_8156-41dup | |
| XM_017009970.2:c.8156-50_8156-41dup | XP_016865459.1:n.8156-50_8156-41dup | |
| XM_017009971.2:c.8156-50_8156-41dup | XP_016865460.1:n.8156-50_8156-41dup | |
| XM_017009972.1:c.1274-50_1274-41dup | XP_016865461.1:n.1274-50_1274-41dup | |
| XM_017009973.1:c.1274-50_1274-41dup | XP_016865462.1:n.1274-50_1274-41dup | |
| XM_017009974.2:c.8156-50_8156-41dup | XP_016865463.1:n.8156-50_8156-41dup | |
| NR_003149.2:n.8172-50_8172-41dup |