Linked Data
ClinVar Variation Id:
662473
ClinVar RCV Id:
RCV000820120
dbSNP Id:
rs778439963
ExAC:
8:145740349 A / AGAC
gnomAD v2:
8-145740349-A-AGAC
gnomAD v4:
8-144514965-A-AGAC
MyVariant Identifiers:
chr8:g.145740349_145740350insGAC (hg19)
chr8:g.144514965_144514966insGAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144514969_144514971dup , CM000670.2:g.144514969_144514971dup | GRCh38 |
| NC_000008.10:g.145740353_145740355dup , CM000670.1:g.145740353_145740355dup | GRCh37 |
| NC_000008.9:g.145711161_145711163dup | NCBI36 |
| NG_016430.1:g.7859_7861dup | |
| NG_033083.1:g.2005_2007dup | |
| NG_016430.2:g.7859_7861dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688394.1:n.611_613dup | ||
| ENST00000617875.6:c.1588_1590dup MANE Select | ENSP00000482313.2:p.Val530_Ser531insVal | |
| ENST00000532846.2:c.443_445dup | ||
| ENST00000617875.4:c.1588_1590dup | ENSP00000482313.1:p.Val530_Ser531insVal | |
| ENST00000621189.4:c.517_519dup | ENSP00000483145.1:p.Val173_Ser174insVal | |
| NM_004260.3:c.1588_1590dup | NP_004251.3:p.Val530_Ser531insVal | |
| XM_011517380.1:c.1588_1590dup | XP_011515682.1:p.Val530_Ser531insVal | |
| XM_011517381.1:c.1492_1494dup | XP_011515683.1:p.Val498_Ser499insVal | |
| XM_011517382.1:c.1588_1590dup | XP_011515684.1:p.Val530_Ser531insVal | |
| XM_011517383.1:c.1588_1590dup | XP_011515685.1:p.Val530_Ser531insVal | |
| XM_011517384.1:c.1588_1590dup | XP_011515686.1:p.Val530_Ser531insVal | |
| XM_011517385.1:c.451_453dup | XP_011515687.1:p.Val151_Ser152insVal | |
| XR_928366.1:n.1629_1631dup | ||
| XR_928367.1:n.1629_1631dup | ||
| XR_928368.1:n.1631_1633dup | ||
| XM_011517384.3:c.1588_1590dup | XP_011515686.1:p.Val530_Ser531insVal | |
| XM_017013991.2:c.1588_1590dup | XP_016869480.1:p.Val530_Ser531insVal | |
| XM_017013992.2:c.1588_1590dup | XP_016869481.1:p.Val530_Ser531insVal | |
| XM_017013993.2:c.1588_1590dup | XP_016869482.1:p.Val530_Ser531insVal | |
| XM_017013994.2:c.1492_1494dup | XP_016869483.1:p.Val498_Ser499insVal | |
| XM_017013995.2:c.1588_1590dup | XP_016869484.1:p.Val530_Ser531insVal | |
| XM_017013996.2:c.1588_1590dup | XP_016869485.1:p.Val530_Ser531insVal | |
| XM_017013997.2:c.1588_1590dup | XP_016869486.1:p.Val530_Ser531insVal | |
| XM_017013998.1:c.1588_1590dup | XP_016869487.1:p.Val530_Ser531insVal | |
| XM_017013999.2:c.1588_1590dup | XP_016869488.1:p.Val530_Ser531insVal | |
| XM_017014000.1:c.451_453dup | XP_016869489.1:p.Val151_Ser152insVal | |
| XM_017014001.2:c.451_453dup | XP_016869490.1:p.Val151_Ser152insVal | |
| XR_001745626.2:n.1625_1627dup | ||
| XR_001745627.2:n.1625_1627dup | ||
| XR_001745628.2:n.1625_1627dup | ||
| XR_001745629.2:n.1625_1627dup | ||
| XR_001745630.2:n.1625_1627dup | ||
| NM_004260.4:c.1588_1590dup MANE Select | NP_004251.4:p.Val530_Ser531insVal |