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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 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.
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.34008135_34008136insCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCC , CM000667.2:g.34008135_34008136insCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCC
GRCh38
NC_000005.9:g.34008240_34008241insCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCC , CM000667.1:g.34008240_34008241insCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCC
GRCh37
NC_000005.8:g.34043997_34043998insCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCCCAGCCGCGGCGCCGCGCCCC
NCBI36
NG_016211.1:g.5006_5007insCGGCGCCGCGGCTGGGGGCGCGGCGCCGCGGCTGGGGGCGCGGCGCCGCGGCTGGGGGCGCGGCGCCGCGGCTGGGGGCG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000382079.3:c.690-2211_690-2210insCGGCGCCGCGGCTGGGGGCGCGGCGCCGCGGCTGGGGGCGCGGCGCCGCGGCTGGGGGCGCGGCGCCGCGGCTGGGGGCG
ENSP00000371511.3:n.690-2211_690-2210insCGGCGCCGCGGCTGGGGGCGC...
NR_037951.1:n.765-2211_765-2210insCGGCGCCGCGGCTGGGGGCGCGGCGCCGCGGCTGGGGGCGCGGCGCCGCGGCTGGGGGCGCGGCGCCGCGGCTGGGGGCG