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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.
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.129530568_129530569insCAACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA , CM000665.2:g.129530568_129530569insCAACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
GRCh38
NC_000003.11:g.129249411_129249412insCAACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA , CM000665.1:g.129249411_129249412insCAACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
GRCh37
NC_000003.10:g.130732101_130732102insCAACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
NCBI36
NG_009115.1:g.6930_6931insCAACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296271.4:c.362-308_362-307insCAACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
MANE Select
ENSP00000296271.3:n.362-308_362-307insCAACACACACACACACACACACA...
ENST00000296271.3:c.362-308_362-307insCAACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
ENSP00000296271.3:n.362-308_362-307insCAACACACACACACACACACACA...
NM_000539.3:c.362-308_362-307insCAACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
MANE Select
NP_000530.1:n.362-308_362-307insCAACACACACACACACACACACACACACA...