Linked Data
ClinVar Variation Id:
95935
dbSNP Id:
rs35400794
ExAC:
16:5122072 G / GGTCT
gnomAD v2:
16-5122072-G-GGTCT
gnomAD v3:
16-5072071-G-GGTCT
gnomAD v4:
16-5072071-G-GGTCT
MyVariant Identifiers:
chr16:g.5122074_5122077dup (hg19)
chr16:g.5122074_5122077dupTCTG (hg19)
chr16:g.5122077_5122078insTCTG (hg19)
chr16:g.5122073_5122074insTCTG (hg19)
chr16:g.5122072_5122073insGTCT (hg19)
chr16:g.5072073_5072076dupTCTG (hg38)
chr16:g.5072076_5072077insTCTG (hg38)
chr16:g.5072072_5072073insTCTG (hg38)
chr16:g.5072071_5072072insGTCT (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5072073_5072076dup , CM000678.2:g.5072073_5072076dup | GRCh38 |
| NC_000016.9:g.5122074_5122077dup , CM000678.1:g.5122074_5122077dup | GRCh37 |
| NC_000016.8:g.5062075_5062078dup | NCBI36 |
| NG_009202.1:g.5265_5268dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.215+16_215+19dup | ||
| ENST00000682020.1:c.-55-5372_-55-5369dup | ENSP00000508075.1:n.-55-5372_-55-5369dup | |
| ENST00000682206.1:c.208+16_208+19dup | ENSP00000508285.1:n.208+16_208+19dup | |
| ENST00000682314.1:n.252+16_252+19dup | ||
| ENST00000682327.1:c.-99-3315_-99-3312dup | ENSP00000507058.1:n.-99-3315_-99-3312dup | |
| ENST00000682349.1:n.215+16_215+19dup | ||
| ENST00000682703.1:n.215+16_215+19dup | ||
| ENST00000682797.1:c.208+16_208+19dup | ENSP00000507582.1:n.208+16_208+19dup | |
| ENST00000682985.1:c.-99-3315_-99-3312dup | ENSP00000507598.1:n.-99-3315_-99-3312dup | |
| ENST00000683433.1:c.-55-5372_-55-5369dup | ENSP00000507463.1:n.-55-5372_-55-5369dup | |
| ENST00000683685.1:n.252+16_252+19dup | ||
| ENST00000683710.1:c.208+16_208+19dup | ENSP00000506785.1:n.208+16_208+19dup | |
| ENST00000683772.1:n.252+16_252+19dup | ||
| ENST00000684008.1:c.142+82_142+85dup | ENSP00000507962.1:n.142+82_142+85dup | |
| ENST00000684190.1:c.208+16_208+19dup | ENSP00000507554.1:n.208+16_208+19dup | |
| ENST00000684335.1:c.208+16_208+19dup | ENSP00000508112.1:n.208+16_208+19dup | |
| ENST00000262374.10:c.208+16_208+19dup MANE Select | ENSP00000262374.5:n.208+16_208+19dup | |
| ENST00000650085.1:n.1013-878_1013-875dup | ||
| ENST00000262374.9:c.208+16_208+19dup | ENSP00000262374.4:n.208+16_208+19dup | |
| ENST00000586840.1:c.208+16_208+19dup | ENSP00000467538.1:n.208+16_208+19dup | |
| ENST00000588623.5:c.-125-878_-125-875dup | ENSP00000468118.1:n.-125-878_-125-875dup | |
| ENST00000591822.5:c.224_227dup | ENSP00000467865.1:p.Trp76CysfsTer? | |
| ENST00000592793.5:n.215+16_215+19dup | ||
| NM_019109.4:c.208+16_208+19dup | NP_061982.3:n.208+16_208+19dup | |
| XR_932882.1:n.249+16_249+19dup | ||
| XM_017023457.2:c.208+16_208+19dup | XP_016878946.1:n.208+16_208+19dup | |
| XM_017023458.1:c.-266_-263dup | XP_016878947.1:n.-266_-263dup | |
| XR_932882.3:n.233+16_233+19dup | ||
| NM_019109.5:c.208+16_208+19dup MANE Select | NP_061982.3:n.208+16_208+19dup |