Linked Data
dbSNP Id:
rs915828014
gnomAD v2:
8-41790733-C-CTGGTTG
gnomAD v3:
8-41933215-C-CTGGTTG
gnomAD v4:
8-41933215-C-CTGGTTG
MyVariant Identifiers:
chr8:g.41790733_41790734insTGGTTG (hg19)
chr8:g.41933215_41933216insTGGTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933225_41933230dup , CM000670.2:g.41933225_41933230dup | GRCh38 |
| NC_000008.10:g.41790743_41790748dup , CM000670.1:g.41790743_41790748dup | GRCh37 |
| NC_000008.9:g.41909900_41909905dup | NCBI36 |
| NG_042093.1:g.123806_123811dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265713.8:c.4999_5004dup MANE Select | ENSP00000265713.2:p.Pro1668_Ala1669insGlnPro | |
| ENST00000396930.4:c.4999_5004dup | ENSP00000380136.3:p.Pro1668_Ala1669insGlnPro | |
| ENST00000406337.6:c.5005_5010dup | ENSP00000385888.2:p.Pro1670_Ala1671insGlnPro | |
| ENST00000648335.1:c.4999_5004dup | ENSP00000497086.1:p.Pro1668_Ala1669insGlnPro | |
| ENST00000649817.1:c.3680_3685dup | ||
| ENST00000265713.6:c.4999_5004dup | ENSP00000265713.2:p.Pro1668_Ala1669insGlnPro | |
| ENST00000396930.3:c.4999_5004dup | ENSP00000380136.3:p.Pro1668_Ala1669insGlnPro | |
| ENST00000406337.5:c.4999_5004dup | ENSP00000385888.1:p.Pro1668_Ala1669insGlnPro | |
| NM_001099412.1:c.4999_5004dup | NP_001092882.1:p.Pro1668_Ala1669insGlnPro | |
| NM_001099413.1:c.4999_5004dup | NP_001092883.1:p.Pro1668_Ala1669insGlnPro | |
| NM_006766.3:c.4999_5004dup | NP_006757.2:p.Pro1668_Ala1669insGlnPro | |
| NM_006766.4:c.4999_5004dup | NP_006757.2:p.Pro1668_Ala1669insGlnPro | |
| XM_011544656.1:c.5131_5136dup | XP_011542958.1:p.Pro1712_Ala1713insGlnPro | |
| XM_011544657.1:c.5131_5136dup | XP_011542959.1:p.Pro1712_Ala1713insGlnPro | |
| XM_011544658.1:c.5131_5136dup | XP_011542960.1:p.Pro1712_Ala1713insGlnPro | |
| XM_011544659.1:c.5110_5115dup | XP_011542961.1:p.Pro1705_Ala1706insGlnPro | |
| XM_011544660.1:c.5017_5022dup | XP_011542962.1:p.Pro1674_Ala1675insGlnPro | |
| XM_011544656.2:c.5131_5136dup | XP_011542958.1:p.Pro1712_Ala1713insGlnPro | |
| XM_011544657.3:c.5131_5136dup | XP_011542959.1:p.Pro1712_Ala1713insGlnPro | |
| XM_011544658.3:c.5131_5136dup | XP_011542960.1:p.Pro1712_Ala1713insGlnPro | |
| XM_011544659.2:c.5110_5115dup | XP_011542961.1:p.Pro1705_Ala1706insGlnPro | |
| XM_017013863.1:c.4999_5004dup | XP_016869352.1:p.Pro1668_Ala1669insGlnPro | |
| XM_017013864.2:c.4999_5004dup | XP_016869353.1:p.Pro1668_Ala1669insGlnPro | |
| XM_024447285.1:c.3571_3576dup | XP_024303053.1:p.Pro1192_Ala1193insGlnPro | |
| NM_006766.5:c.4999_5004dup MANE Select | NP_006757.2:p.Pro1668_Ala1669insGlnPro |