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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_000001.11:g.168293288_168293289insTTGTGTGTGTGTGTGTGTGTGT , CM000663.2:g.168293288_168293289insTTGTGTGTGTGTGTGTGTGTGT
GRCh38
NC_000001.10:g.168262526_168262527insTTGTGTGTGTGTGTGTGTGTGT , CM000663.1:g.168262526_168262527insTTGTGTGTGTGTGTGTGTGTGT
GRCh37
NC_000001.9:g.166529150_166529151insTTGTGTGTGTGTGTGTGTGTGT
NCBI36
NG_008244.1:g.17249_17250insTTGTGTGTGTGTGTGTGTGTGT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367821.8:c.603+10_603+11insTTGTGTGTGTGTGTGTGTGTGT
MANE Select
ENSP00000356795.3:n.603+10_603+11insTTGTGTGTGTGTGTGTGTGTGT
ENST00000367821.7:c.603+10_603+11insTTGTGTGTGTGTGTGTGTGTGT
ENSP00000356795.3:n.603+10_603+11insTTGTGTGTGTGTGTGTGTGTGT
ENST00000431969.5:c.400+10_400+11insTTGTGTGTGTGTGTGTGTGTGT
NM_005149.2:c.603+10_603+11insTTGTGTGTGTGTGTGTGTGTGT
NP_005140.1:n.603+10_603+11insTTGTGTGTGTGTGTGTGTGTGT
NM_005149.3:c.603+10_603+11insTTGTGTGTGTGTGTGTGTGTGT
MANE Select
NP_005140.1:n.603+10_603+11insTTGTGTGTGTGTGTGTGTGTGT