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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_000021.9:g.43072201C= , CM000683.2:g.43072201C=
GRCh38
NG_008938.1:g.8730G= , LRG_777:g.8730G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000398165.8:c.-8G=
MANE Select
ENSP00000381231.4:n.-8G=
ENST00000352178.9:c.-8G=
ENSP00000344460.5:n.-8G=
ENST00000359624.7:c.-8G=
ENSP00000352643.3:n.-8G=
ENST00000398158.5:c.-8G=
ENSP00000381225.1:n.-8G=
ENST00000398165.7:c.-8G=
ENSP00000381231.3:n.-8G=
ENST00000441030.5:c.-8G=
ENSP00000388235.1:n.-8G=
ENST00000465732.5:n.172G=
ENST00000470912.5:n.253G=
ENST00000488526.1:n.244G=
NM_000071.2:c.-8G= , LRG_777t1:c.-8G=
NP_000062.1:n.-8G=
NM_001178008.1:c.-8G=
NP_001171479.1:n.-8G=
NM_001178009.1:c.-8G=
NP_001171480.1:n.-8G=
XM_011529777.1:c.-8G=
XP_011528079.1:n.-8G=
XM_011529778.1:c.-8G=
XP_011528080.1:n.-8G=
XM_011529779.1:c.-8G=
XP_011528081.1:n.-8G=
XM_011529781.1:c.-8G=
XP_011528083.1:n.-8G=
XM_011529782.1:c.-8G=
XP_011528084.1:n.-8G=
NM_001178008.2:c.-8G=
NP_001171479.1:n.-8G=
NM_001178009.2:c.-8G=
NP_001171480.1:n.-8G=
NM_001320298.1:c.-8G=
NP_001307227.1:n.-8G=
XM_011529777.2:c.-8G=
XP_011528079.1:n.-8G=
XM_017028491.2:c.-8G=
XP_016883980.1:n.-8G=
XM_024452136.1:c.-776G=
XP_024307904.1:n.-776G=
XM_024452137.1:c.-776G=
XP_024307905.1:n.-776G=
XM_024452138.1:c.-1054G=
XP_024307906.1:n.-1054G=
XM_024452139.1:c.-1054G=
XP_024307907.1:n.-1054G=
XM_024452140.1:c.-1054G=
XP_024307908.1:n.-1054G=
XR_001754916.2:n.143G=
XR_001754917.2:n.143G=
XR_002958634.1:n.143G=
NM_000071.3:c.-8G=
MANE Select
NP_000062.1:n.-8G=
NM_001178009.3:c.-8G=
NP_001171480.1:n.-8G=
NM_001178008.3:c.-8G=
NP_001171479.1:n.-8G=
NM_001320298.2:c.-8G=
NP_001307227.1:n.-8G=