Linked Data
dbSNP Id:
rs775706707
ExAC:
22:19960496 C / CTCGTG
gnomAD v2:
22-19960496-C-CTCGTG
gnomAD v3:
22-19972973-C-CTCGTG
gnomAD v4:
22-19972973-C-CTCGTG
MyVariant Identifiers:
chr22:g.19960496_19960497insTCGTG (hg19)
chr22:g.19972973_19972974insTCGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19972975_19972976insGTGTC , CM000684.2:g.19972975_19972976insGTGTC | GRCh38 |
| NC_000022.10:g.19960498_19960499insGTGTC , CM000684.1:g.19960498_19960499insGTGTC | GRCh37 |
| NC_000022.9:g.18340498_18340499insGTGTC | NCBI36 |
| NG_023326.1:g.48813_48814insCACGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263207.8:c.2501_2502insCACGA MANE Select | ENSP00000263207.3:p.Glu834AspfsTer32 | |
| ENST00000263207.7:c.2501_2502insCACGA | ENSP00000263207.3:p.Glu834AspfsTer32 | |
| ENST00000401994.5:c.2312_2313insCACGA | ENSP00000384341.1:p.Glu771AspfsTer32 | |
| ENST00000406259.1:c.2483_2484insCACGA | ENSP00000385444.1:p.Glu828AspfsTer32 | |
| ENST00000406522.5:c.2294_2295insCACGA | ENSP00000384732.1:p.Glu765AspfsTer32 | |
| ENST00000495096.5:n.1423_1424insCACGA | ||
| NM_001670.2:c.2501_2502insCACGA | NP_001661.1:p.Glu834AspfsTer32 | |
| XM_005261242.1:c.2483_2484insCACGA | XP_005261299.1:p.Glu828AspfsTer32 | |
| XM_005261243.3:c.2483_2484insCACGA | XP_005261300.1:p.Glu828AspfsTer32 | |
| XM_005261244.3:c.2483_2484insCACGA | XP_005261301.1:p.Glu828AspfsTer32 | |
| XM_006724243.1:c.2501_2502insCACGA | XP_006724306.1:p.Glu834AspfsTer32 | |
| XM_006724245.2:c.2501_2502insCACGA | XP_006724308.1:p.Glu834AspfsTer32 | |
| XM_006724246.2:c.2255_2256insCACGA | XP_006724309.1:p.Glu752AspfsTer32 | |
| XM_006724247.2:c.2312_2313insCACGA | XP_006724310.1:p.Glu771AspfsTer32 | |
| XM_006724248.2:c.2294_2295insCACGA | XP_006724311.1:p.Glu765AspfsTer32 | |
| XM_011530179.1:c.2468_2469insCACGA | XP_011528481.1:p.Glu823AspfsTer32 | |
| XM_011530180.1:c.2501_2502insCACGA | XP_011528482.1:p.Glu834AspfsTer32 | |
| XM_011530182.1:c.1067_1068insCACGA | XP_011528484.1:p.Glu356AspfsTer32 | |
| XM_011530183.1:c.1049_1050insCACGA | XP_011528485.1:p.Glu350AspfsTer32 | |
| XR_937863.1:n.2588_2589insCACGA | ||
| XR_937864.1:n.2588_2589insCACGA | ||
| XM_005261242.3:c.2483_2484insCACGA | XP_005261299.1:p.Glu828AspfsTer32 | |
| XM_005261243.4:c.2483_2484insCACGA | XP_005261300.1:p.Glu828AspfsTer32 | |
| XM_005261244.4:c.2483_2484insCACGA | XP_005261301.1:p.Glu828AspfsTer32 | |
| XM_006724243.3:c.2501_2502insCACGA | XP_006724306.1:p.Glu834AspfsTer32 | |
| XM_006724245.3:c.2501_2502insCACGA | XP_006724308.1:p.Glu834AspfsTer32 | |
| XM_006724246.4:c.2255_2256insCACGA | XP_006724309.1:p.Glu752AspfsTer32 | |
| XM_006724247.4:c.2312_2313insCACGA | XP_006724310.1:p.Glu771AspfsTer32 | |
| XM_006724248.4:c.2294_2295insCACGA | XP_006724311.1:p.Glu765AspfsTer32 | |
| XM_011530179.3:c.2468_2469insCACGA | XP_011528481.1:p.Glu823AspfsTer32 | |
| XM_011530182.3:c.1067_1068insCACGA | XP_011528484.1:p.Glu356AspfsTer32 | |
| XM_011530183.3:c.1049_1050insCACGA | XP_011528485.1:p.Glu350AspfsTer32 | |
| XM_024452249.1:c.2255_2256insCACGA | XP_024308017.1:p.Glu752AspfsTer32 | |
| XR_937863.2:n.2588_2589insCACGA | ||
| NM_001670.3:c.2501_2502insCACGA MANE Select | NP_001661.1:p.Glu834AspfsTer32 |