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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.33241916A= , CM000683.2:g.33241916A=
GRCh38
NC_000021.8:g.34614221A= , CM000683.1:g.34614221A=
GRCh37
NC_000021.7:g.33536091A=
NCBI36
NG_016003.1:g.16991A=
NG_016003.2:g.16991A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000433395.7:c.-7A=
ENSP00000388223.3:n.-7A=
ENST00000700427.1:n.204A=
ENST00000700429.1:n.228A=
ENST00000682009.1:c.-7A=
ENSP00000506919.1:n.-7A=
ENST00000683116.1:c.-7A=
ENSP00000508125.1:n.-7A=
ENST00000683941.1:c.-7A=
ENSP00000508013.1:n.-7A=
ENST00000342136.9:c.-7A=
MANE Select
ENSP00000343957.5:n.-7A=
ENST00000646150.1:c.-7A=
ENSP00000496248.1:n.-7A=
ENST00000342101.7:c.-7A=
ENSP00000343289.3:n.-7A=
ENST00000342136.8:c.-7A=
ENSP00000343957.4:n.-7A=
ENST00000382238.6:c.-7A=
ENSP00000371673.2:n.-7A=
ENST00000382264.7:c.-7A=
ENSP00000371699.3:n.-7A=
ENST00000404220.7:c.-7A=
ENSP00000384309.2:n.-7A=
ENST00000413881.5:c.-119-3035A=
ENSP00000413160.1:n.-119-3035A=
ENST00000420068.1:n.266A=
ENST00000443073.5:c.-119-3035A=
ENSP00000403569.1:n.-119-3035A=
ENST00000447980.1:c.66A=
ENSP00000402311.1:p.Ile22=
NM_000874.4:c.-7A=
NP_000865.2:n.-7A=
NM_001289125.1:c.-7A=
NP_001276054.1:n.-7A=
NM_001289126.1:c.-7A=
NP_001276055.1:n.-7A=
NM_001289128.1:c.-7A=
NP_001276057.1:n.-7A=
NM_207584.2:c.-7A=
NP_997467.1:n.-7A=
NM_207585.2:c.-7A=
NP_997468.1:n.-7A=
NM_000874.5:c.-7A=
NP_000865.2:n.-7A=
NM_001289125.3:c.-7A=
MANE Select
NP_001276054.1:n.-7A=
NM_207584.3:c.-7A=
NP_997467.1:n.-7A=
NM_001289126.2:c.-7A=
NP_001276055.1:n.-7A=
NM_001289128.2:c.-7A=
NP_001276057.1:n.-7A=
NM_001385054.1:c.-7A=
NP_001371983.1:n.-7A=
NM_001385055.1:c.-7A=
NP_001371984.1:n.-7A=
NM_207585.3:c.-7A=
NP_997468.1:n.-7A=