Linked Data
ClinVar Variation Id:
96674
dbSNP Id:
rs398124622
ExAC:
17:73512643 T / TGGAGCC
gnomAD v2:
17-73512643-T-TGGAGCC
gnomAD v3:
17-75516562-T-TGGAGCC
gnomAD v4:
17-75516562-T-TGGAGCC
COSMIC:
COSM5446111
MyVariant Identifiers:
chr17:g.73512644_73512649dup (hg19)
chr17:g.73512644_73512649dupGGAGCC (hg19)
chr17:g.73512649_73512650insGGAGCC (hg19)
chr17:g.73512643_73512644insGGAGCC (hg19)
chr17:g.75516563_75516568dupGGAGCC (hg38)
chr17:g.75516568_75516569insGGAGCC (hg38)
chr17:g.75516562_75516563insGGAGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516563_75516568dup , CM000679.2:g.75516563_75516568dup | GRCh38 |
| NC_000017.10:g.73512644_73512649dup , CM000679.1:g.73512644_73512649dup | GRCh37 |
| NC_000017.9:g.71024239_71024244dup | NCBI36 |
| NG_013041.1:g.5036_5041dup | |
| NG_033152.1:g.4016_4021dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.3_8dup MANE Select | ENSP00000327487.6:p.Pro3_Glu4insGluPro | |
| ENST00000434205.8:c.-83+177_-83+182dup | ENSP00000406559.4:n.-83+177_-83+182dup | |
| ENST00000545228.3:c.3_8dup | ENSP00000438169.3:p.Pro3_Glu4insGluPro | |
| ENST00000580013.6:n.12_17dup | ||
| ENST00000583818.2:c.3_8dup | ENSP00000461928.2:p.Pro3_Glu4insGluPro | |
| ENST00000679370.1:n.443+177_444-178dup | ||
| ENST00000679429.1:c.3_8dup | ENSP00000505403.1:p.Pro3_Glu4insGluPro | |
| ENST00000679782.1:c.3_8dup | ENSP00000505995.1:p.Pro3_Glu4insGluPro | |
| ENST00000679928.1:c.3_8dup | ENSP00000506071.1:p.Pro3_Glu4insGluPro | |
| ENST00000680528.1:n.28_33dup | ||
| ENST00000680999.1:c.3_8dup | ENSP00000504984.1:p.Pro3_Glu4insGluPro | |
| ENST00000681282.1:c.3_8dup | ENSP00000506339.1:p.Pro3_Glu4insGluPro | |
| ENST00000333213.10:c.3_8dup | ENSP00000327487.6:p.Pro3_Glu4insGluPro | |
| ENST00000434205.7:c.-83+177_-83+182dup | ENSP00000406559.3:n.-83+177_-83+182dup | |
| ENST00000580013.5:n.28_33dup | ||
| ENST00000583173.5:c.3_8dup | ENSP00000463619.1:p.Pro3_Glu4insGluPro | |
| ENST00000583454.1:n.38_43dup | ||
| NM_207346.2:c.3_8dup | NP_997229.2:p.Pro3_Glu4insGluPro | |
| XM_005257229.2:c.3_8dup | XP_005257286.1:p.Pro3_Glu4insGluPro | |
| XM_006721821.2:c.-248+177_-247-178dup | XP_006721884.1:n.-248+177_-247-178dup | |
| XM_011524616.1:c.3_8dup | XP_011522918.1:p.Pro3_Glu4insGluPro | |
| XM_011524617.1:c.3_8dup | XP_011522919.1:p.Pro3_Glu4insGluPro | |
| XM_011524618.1:c.3_8dup | XP_011522920.1:p.Pro3_Glu4insGluPro | |
| XR_243646.2:n.33_38dup | ||
| XM_005257229.4:c.3_8dup | XP_005257286.1:p.Pro3_Glu4insGluPro | |
| XR_243646.4:n.39_44dup | ||
| NM_207346.3:c.3_8dup MANE Select | NP_997229.2:p.Pro3_Glu4insGluPro |