Linked Data
ClinVar Variation Id:
446411
dbSNP Id:
rs1205970095
gnomAD v2:
16-74695142-A-AGG
gnomAD v4:
16-74661244-A-AGG
MyVariant Identifiers:
chr16:g.74695143_74695144dup (hg19)
chr16:g.74695142_74695143insGG (hg19)
chr16:g.74661245_74661246dup (hg38)
chr16:g.74661244_74661245insGG (hg38)
PubMed:
PMID:28691929
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74661247_74661248dup , CM000678.2:g.74661247_74661248dup | GRCh38 |
| NC_000016.9:g.74695145_74695146dup , CM000678.1:g.74695145_74695146dup | GRCh37 |
| NC_000016.8:g.73252646_73252647dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361070.9:c.204_205dup MANE Select | ENSP00000354361.4:p.Leu69ProfsTer13 | |
| ENST00000361070.8:c.204_205dup | ENSP00000354361.4:p.Leu69ProfsTer13 | |
| ENST00000571750.5:c.204_205dup | ENSP00000460049.1:p.Leu69ProfsTer13 | |
| ENST00000571776.1:n.290_291dup | ||
| ENST00000572337.5:c.-317+3378_-317+3379dup | ENSP00000459465.1:n.-317+3378_-317+3379dup | |
| ENST00000572990.5:c.204_205dup | ENSP00000459899.1:p.Leu69ProfsTer13 | |
| ENST00000575113.1:c.204_205dup | ENSP00000461285.1:p.Leu69ProfsTer13 | |
| ENST00000575397.5:n.375_376dup | ||
| ENST00000576652.1:c.204_205dup | ENSP00000459515.1:p.Leu69ProfsTer13 | |
| NM_018124.3:c.204_205dup | NP_060594.3:p.Leu69ProfsTer13 | |
| XM_005256021.3:c.204_205dup | XP_005256078.1:p.Leu69ProfsTer13 | |
| XM_005256022.3:c.204_205dup | XP_005256079.1:p.Leu69ProfsTer13 | |
| XM_006721228.2:c.204_205dup | XP_006721291.1:p.Leu69ProfsTer13 | |
| XM_011523191.1:c.204_205dup | XP_011521493.1:p.Leu69ProfsTer13 | |
| XM_005256021.4:c.204_205dup | XP_005256078.1:p.Leu69ProfsTer13 | |
| XM_005256022.4:c.204_205dup | XP_005256079.1:p.Leu69ProfsTer13 | |
| XM_006721228.3:c.204_205dup | XP_006721291.1:p.Leu69ProfsTer13 | |
| XM_011523191.3:c.204_205dup | XP_011521493.1:p.Leu69ProfsTer13 | |
| XM_017023391.1:c.204_205dup | XP_016878880.1:p.Leu69ProfsTer13 | |
| XM_017023392.1:c.204_205dup | XP_016878881.1:p.Leu69ProfsTer13 | |
| NM_018124.4:c.204_205dup MANE Select | NP_060594.3:p.Leu69ProfsTer13 | |
| NM_001370534.1:c.204_205dup | NP_001357463.1:p.Leu69ProfsTer13 | |
| NM_001370535.1:c.204_205dup | NP_001357464.1:p.Leu69ProfsTer13 | |
| NM_001370536.1:c.204_205dup | NP_001357465.1:p.Leu69ProfsTer13 | |
| NM_001370537.1:c.-805_-804dup | NP_001357466.1:n.-805_-804dup | |
| NM_001370539.1:c.-428_-427dup | NP_001357468.1:n.-428_-427dup | |
| NM_001370540.1:c.-317+3378_-317+3379dup | NP_001357469.1:n.-317+3378_-317+3379dup | |
| NM_001370542.1:c.-682_-681dup | NP_001357471.1:n.-682_-681dup | |
| NM_001370543.1:c.-560_-559dup | NP_001357472.1:n.-560_-559dup |