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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_000019.10:g.33521762T= , CM000681.2:g.33521762T=
GRCh38
NC_000019.9:g.34012668T= , CM000681.1:g.34012668T=
GRCh37
NC_000019.8:g.38704508T=
NCBI36
NG_013358.1:g.5132A=
NG_013358.2:g.5132A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000588328.7:c.-2A=
ENSP00000468516.4:n.-2A=
ENST00000651901.2:c.-2A=
ENSP00000498922.2:n.-2A=
ENST00000698359.1:c.-2A=
ENSP00000513682.1:n.-2A=
ENST00000698360.1:c.-2A=
ENSP00000513683.1:n.-2A=
ENST00000698361.1:c.-2A=
ENSP00000513684.1:n.-2A=
ENST00000698362.1:c.-2A=
ENSP00000513685.1:n.-2A=
ENST00000698363.1:n.62A=
ENST00000698364.1:n.62A=
ENST00000698365.1:n.62A=
ENST00000698426.1:c.-517A=
ENSP00000513713.1:n.-517A=
ENST00000698427.1:c.-67A=
ENSP00000513714.1:n.-67A=
ENST00000698428.1:c.-395A=
ENSP00000513715.1:n.-395A=
ENST00000698435.1:c.-2A=
ENSP00000513719.1:n.-2A=
ENST00000698436.1:c.-2A=
ENSP00000513720.1:n.-2A=
ENST00000244137.12:c.-2A=
MANE Select
ENSP00000244137.5:n.-2A=
ENST00000244137.11:c.-2A=
ENSP00000244137.5:n.-2A=
ENST00000397032.8:c.-2A=
ENSP00000380226.3:n.-2A=
ENST00000436370.7:c.-2A=
ENSP00000391890.2:n.-2A=
NM_000285.3:c.-2A=
NP_000276.2:n.-2A=
NM_001166056.1:c.-2A=
NP_001159528.1:n.-2A=
NM_001166057.1:c.-2A=
NP_001159529.1:n.-2A=
NM_000285.4:c.-2A=
MANE Select
NP_000276.2:n.-2A=
NM_001166056.2:c.-2A=
NP_001159528.1:n.-2A=
NM_001166057.2:c.-2A=
NP_001159529.1:n.-2A=