Linked Data
ClinVar Variation Id:
2395121
dbSNP Id:
rs766586470
ExAC:
17:73518014 C / CGAGAACG
gnomAD v2:
17-73518014-C-CGAGAACG
gnomAD v3:
17-75521933-C-CGAGAACG
gnomAD v4:
17-75521933-C-CGAGAACG
MyVariant Identifiers:
chr17:g.73518014_73518015insGAGAACG (hg19)
chr17:g.75521933_75521934insGAGAACG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75521937_75521943dup , CM000679.2:g.75521937_75521943dup | GRCh38 |
| NC_000017.10:g.73518018_73518024dup , CM000679.1:g.73518018_73518024dup | GRCh37 |
| NC_000017.9:g.71029613_71029619dup | NCBI36 |
| NG_013041.1:g.10410_10416dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.856_862dup MANE Select | ENSP00000327487.6:p.Val288GlufsTer8 | |
| ENST00000434205.8:c.553_559dup | ENSP00000406559.4:p.Val187GlufsTer8 | |
| ENST00000545228.3:c.856_862dup | ENSP00000438169.3:p.Val288GlufsTer8 | |
| ENST00000579449.2:n.655_661dup | ||
| ENST00000580013.6:n.1059_1065dup | ||
| ENST00000679370.1:n.1437_1443dup | ||
| ENST00000679429.1:c.*314_*320dup | ENSP00000505403.1:n.*314_*320dup | |
| ENST00000679443.1:n.925_931dup | ||
| ENST00000679782.1:c.856_862dup | ENSP00000505995.1:p.Val288GlufsTer8 | |
| ENST00000679919.1:n.925_931dup | ||
| ENST00000679928.1:c.*467_*473dup | ENSP00000506071.1:n.*467_*473dup | |
| ENST00000680528.1:n.881_887dup | ||
| ENST00000680999.1:c.856_862dup | ENSP00000504984.1:p.Val288GlufsTer8 | |
| ENST00000681282.1:c.*102_*108dup | ENSP00000506339.1:n.*102_*108dup | |
| ENST00000333213.10:c.856_862dup | ENSP00000327487.6:p.Val288GlufsTer8 | |
| ENST00000578415.1:c.816_822dup | ||
| ENST00000583173.5:c.459-70_459-64dup | ENSP00000463619.1:n.459-70_459-64dup | |
| NM_207346.2:c.856_862dup | NP_997229.2:p.Val288GlufsTer8 | |
| XM_005257229.2:c.856_862dup | XP_005257286.1:p.Val288GlufsTer8 | |
| XM_006721821.2:c.553_559dup | XP_006721884.1:p.Val187GlufsTer8 | |
| XM_011524616.1:c.856_862dup | XP_011522918.1:p.Val288GlufsTer8 | |
| XM_011524617.1:c.856_862dup | XP_011522919.1:p.Val288GlufsTer8 | |
| XM_011524618.1:c.856_862dup | XP_011522920.1:p.Val288GlufsTer8 | |
| XR_243646.2:n.886_892dup | ||
| XM_005257229.4:c.856_862dup | XP_005257286.1:p.Val288GlufsTer8 | |
| XR_243646.4:n.892_898dup | ||
| NM_207346.3:c.856_862dup MANE Select | NP_997229.2:p.Val288GlufsTer8 |