Linked Data
dbSNP Id:
rs764629675
ExAC:
8:41790672 T / TGCTGGG
gnomAD v2:
8-41790672-T-TGCTGGG
MyVariant Identifiers:
chr8:g.41790672_41790673insGCTGGG (hg19)
chr8:g.41933154_41933155insGCTGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933159_41933164dup , CM000670.2:g.41933159_41933164dup | GRCh38 |
| NC_000008.10:g.41790677_41790682dup , CM000670.1:g.41790677_41790682dup | GRCh37 |
| NC_000008.9:g.41909834_41909839dup | NCBI36 |
| NG_042093.1:g.123867_123872dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265713.8:c.5060_5065dup MANE Select | ENSP00000265713.2:p.Gln1688_Gln1689insProGln | |
| ENST00000396930.4:c.5060_5065dup | ENSP00000380136.3:p.Gln1688_Gln1689insProGln | |
| ENST00000406337.6:c.5066_5071dup | ENSP00000385888.2:p.Gln1690_Gln1691insProGln | |
| ENST00000649817.1:c.3741_3746dup | ||
| ENST00000265713.6:c.5060_5065dup | ENSP00000265713.2:p.Gln1688_Gln1689insProGln | |
| ENST00000396930.3:c.5060_5065dup | ENSP00000380136.3:p.Gln1688_Gln1689insProGln | |
| ENST00000406337.5:c.5060_5065dup | ENSP00000385888.1:p.Gln1688_Gln1689insProGln | |
| NM_001099412.1:c.5060_5065dup | NP_001092882.1:p.Gln1688_Gln1689insProGln | |
| NM_001099413.1:c.5060_5065dup | NP_001092883.1:p.Gln1688_Gln1689insProGln | |
| NM_006766.3:c.5060_5065dup | NP_006757.2:p.Gln1688_Gln1689insProGln | |
| NM_006766.4:c.5060_5065dup | NP_006757.2:p.Gln1688_Gln1689insProGln | |
| XM_011544656.1:c.5192_5197dup | XP_011542958.1:p.Gln1732_Gln1733insProGln | |
| XM_011544657.1:c.5192_5197dup | XP_011542959.1:p.Gln1732_Gln1733insProGln | |
| XM_011544658.1:c.5192_5197dup | XP_011542960.1:p.Gln1732_Gln1733insProGln | |
| XM_011544659.1:c.5171_5176dup | XP_011542961.1:p.Gln1725_Gln1726insProGln | |
| XM_011544660.1:c.5078_5083dup | XP_011542962.1:p.Gln1694_Gln1695insProGln | |
| XM_011544656.2:c.5192_5197dup | XP_011542958.1:p.Gln1732_Gln1733insProGln | |
| XM_011544657.3:c.5192_5197dup | XP_011542959.1:p.Gln1732_Gln1733insProGln | |
| XM_011544658.3:c.5192_5197dup | XP_011542960.1:p.Gln1732_Gln1733insProGln | |
| XM_011544659.2:c.5171_5176dup | XP_011542961.1:p.Gln1725_Gln1726insProGln | |
| XM_017013863.1:c.5060_5065dup | XP_016869352.1:p.Gln1688_Gln1689insProGln | |
| XM_017013864.2:c.5060_5065dup | XP_016869353.1:p.Gln1688_Gln1689insProGln | |
| XM_024447285.1:c.3632_3637dup | XP_024303053.1:p.Gln1212_Gln1213insProGln | |
| NM_006766.5:c.5060_5065dup MANE Select | NP_006757.2:p.Gln1688_Gln1689insProGln |