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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.168293285_168293326delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT , CM000663.2:g.168293285_168293326delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
GRCh38
NC_000001.10:g.168262523_168262564delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT , CM000663.1:g.168262523_168262564delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
GRCh37
NC_000001.9:g.166529147_166529188delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
NCBI36
NG_008244.1:g.17246_17287delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367821.8:c.603+7_603+48delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
MANE Select
ENSP00000356795.3:n.603+7_603+48delinsGTGTGTGTGTGTGTGTGTGTGTG...
ENST00000367821.7:c.603+7_603+48delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
ENSP00000356795.3:n.603+7_603+48delinsGTGTGTGTGTGTGTGTGTGTGTG...
ENST00000431969.5:c.400+7_400+48delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
NM_005149.2:c.603+7_603+48delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
NP_005140.1:n.603+7_603+48delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTG...
NM_005149.3:c.603+7_603+48delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
MANE Select
NP_005140.1:n.603+7_603+48delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTG...