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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_000019.10:g.18388567_18388589delinsCAAGCCGCCAGGGGGCGCCGCAG , CM000681.2:g.18388567_18388589delinsCAAGCCGCCAGGGGGCGCCGCAG
GRCh38
NC_000019.9:g.18499377_18499399delinsCAAGCCGCCAGGGGGCGCCGCAG , CM000681.1:g.18499377_18499399delinsCAAGCCGCCAGGGGGCGCCGCAG
GRCh37
NC_000019.8:g.18360377_18360399delinsCAAGCCGCCAGGGGGCGCCGCAG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000595973.3:c.559_581delinsCAAGCCGCCAGGGGGCGCCGCAG
ENSP00000470531.3:p.Gln187=
ENST00000597765.2:c.559_581delinsCAAGCCGCCAGGGGGCGCCGCAG
ENSP00000469819.2:p.Gln187=
ENST00000252809.3:c.559_581delinsCAAGCCGCCAGGGGGCGCCGCAG
MANE Select
ENSP00000252809.3:p.Gln187=
NM_004864.2:c.559_581delinsCAAGCCGCCAGGGGGCGCCGCAG
NP_004855.2:p.Gln187=
NM_004864.3:c.559_581delinsCAAGCCGCCAGGGGGCGCCGCAG
NP_004855.2:p.Gln187=
XM_024451789.1:c.559_581delinsCAAGCCGCCAGGGGGCGCCGCAG
XP_024307557.1:p.Gln187=
NM_004864.4:c.559_581delinsCAAGCCGCCAGGGGGCGCCGCAG
MANE Select
NP_004855.2:p.Gln187=