SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
Linked Data
ClinVar Variation Id:
142455
dbSNP Id:
rs587782476
gnomAD v2:
16-68771347-C-CGCTGCT
gnomAD v3:
16-68737444-C-CGCTGCT
gnomAD v4:
16-68737444-C-CGCTGCT
MyVariant Identifiers:
chr16:g.68771359_68771364dupTGCTGC (hg19)
chr16:g.68771350_68771351insGCTGCT (hg19)
chr16:g.68771347_68771348insGCTGCT (hg19)
chr16:g.68737456_68737461dupTGCTGC (hg38)
chr16:g.68737444_68737445insGCTGCT (hg38)
ERepo:
CA168401/MONDO:0007648/007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737456_68737461dup , CM000678.2:g.68737456_68737461dup | GRCh38 |
| NC_000016.9:g.68771359_68771364dup , CM000678.1:g.68771359_68771364dup | GRCh37 |
| NC_000016.8:g.67328860_67328865dup | NCBI36 |
| NG_008021.1:g.5165_5170dup , LRG_301:g.5165_5170dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.41_46dup MANE Select | ENSP00000261769.4:p.Leu15_Gln16insLeuLeu | |
| ENST00000261769.9:c.41_46dup | ENSP00000261769.4:p.Leu15_Gln16insLeuLeu | |
| ENST00000422392.6:c.41_46dup | ENSP00000414946.2:p.Leu15_Gln16insLeuLeu | |
| ENST00000566510.5:c.41_46dup | ENSP00000458139.1:p.Leu15_Gln16insLeuLeu | |
| ENST00000566612.5:c.41_46dup | ENSP00000454782.1:p.Leu15_Gln16insLeuLeu | |
| ENST00000611625.4:c.41_46dup | ENSP00000481063.1:p.Leu15_Gln16insLeuLeu | |
| ENST00000612417.4:c.41_46dup | ENSP00000478360.1:p.Leu15_Gln16insLeuLeu | |
| ENST00000621016.4:c.41_46dup | ENSP00000480664.1:p.Leu15_Gln16insLeuLeu | |
| NM_004360.3:c.41_46dup , LRG_301t1:c.41_46dup | NP_004351.1:p.Leu15_Gln16insLeuLeu | |
| NM_001317184.1:c.41_46dup | NP_001304113.1:p.Leu15_Gln16insLeuLeu | |
| NM_001317185.1:c.-1575_-1570dup | NP_001304114.1:n.-1575_-1570dup | |
| NM_001317186.1:c.-1779_-1774dup | NP_001304115.1:n.-1779_-1774dup | |
| NM_004360.4:c.41_46dup | NP_004351.1:p.Leu15_Gln16insLeuLeu | |
| NM_004360.5:c.41_46dup MANE Select | NP_004351.1:p.Leu15_Gln16insLeuLeu | |
| NM_001317184.2:c.41_46dup | NP_001304113.1:p.Leu15_Gln16insLeuLeu | |
| NM_001317185.2:c.-1575_-1570dup | NP_001304114.1:n.-1575_-1570dup | |
| NM_001317186.2:c.-1779_-1774dup | NP_001304115.1:n.-1779_-1774dup |