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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.1430803_1430804insCCCGCCTGGCTGTTCCTATCACCG , CM000667.2:g.1430803_1430804insCCCGCCTGGCTGTTCCTATCACCG
GRCh38
NC_000005.9:g.1430918_1430919insCCCGCCTGGCTGTTCCTATCACCG , CM000667.1:g.1430918_1430919insCCCGCCTGGCTGTTCCTATCACCG
GRCh37
NC_000005.8:g.1483918_1483919insCCCGCCTGGCTGTTCCTATCACCG
NCBI36
NG_015885.1:g.19631_19632insTAGGAACAGCCAGGCGGGCGGTGA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000270349.12:c.653+1666_653+1667insTAGGAACAGCCAGGCGGGCGGTGA
MANE Select
ENSP00000270349.9:n.653+1666_653+1667insTAGGAACAGCCAGGCGGGCGG...
ENST00000270349.11:c.653+1666_653+1667insTAGGAACAGCCAGGCGGGCGGTGA
ENSP00000270349.9:n.653+1666_653+1667insTAGGAACAGCCAGGCGGGCGG...
NM_001044.4:c.653+1666_653+1667insTAGGAACAGCCAGGCGGGCGGTGA
NP_001035.1:n.653+1666_653+1667insTAGGAACAGCCAGGCGGGCGGTGA
NM_001044.5:c.653+1666_653+1667insTAGGAACAGCCAGGCGGGCGGTGA
MANE Select
NP_001035.1:n.653+1666_653+1667insTAGGAACAGCCAGGCGGGCGGTGA