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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_000005.10:g.1414445_1414446insTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414445_1414446insTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC
GRCh38
NC_000005.9:g.1414560_1414561insTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414560_1414561insTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC
GRCh37
NC_000005.8:g.1467560_1467561insTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC
NCBI36
NG_015885.1:g.36004_36005insCCTGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000270349.12:c.1156+266_1156+267insCCTGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC
MANE Select
ENSP00000270349.9:n.1156+266_1156+267insCCTGCCCTGACCCTCCCGGCC...
ENST00000270349.11:c.1156+266_1156+267insCCTGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC
ENSP00000270349.9:n.1156+266_1156+267insCCTGCCCTGACCCTCCCGGCC...
NM_001044.4:c.1156+266_1156+267insCCTGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC
NP_001035.1:n.1156+266_1156+267insCCTGCCCTGACCCTCCCGGCCCCCCAC...
NM_001044.5:c.1156+266_1156+267insCCTGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC
MANE Select
NP_001035.1:n.1156+266_1156+267insCCTGCCCTGACCCTCCCGGCCCCCCAC...