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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_000016.10:g.78099776G= , CM000678.2:g.78099776G=
GRCh38
NC_000016.9:g.78133673G= , CM000678.1:g.78133673G=
GRCh37
NC_000016.8:g.76691174G=
NCBI36
NG_011698.1:g.5123G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000627394.3:c.-3G=
ENSP00000485925.2:n.-3G=
ENST00000682609.1:n.325G=
ENST00000683286.1:n.325G=
ENST00000683929.1:c.-3G=
ENSP00000507689.1:n.-3G=
ENST00000684070.1:n.327G=
ENST00000684381.1:n.325G=
ENST00000684452.1:n.325G=
ENST00000684632.1:n.377G=
ENST00000566780.6:c.-3G=
MANE Select
ENSP00000457230.1:n.-3G=
ENST00000355860.7:c.-3G=
ENSP00000348119.3:n.-3G=
ENST00000402655.6:c.-3G=
ENSP00000384238.2:n.-3G=
ENST00000406884.6:c.-3G=
ENSP00000384495.2:n.-3G=
ENST00000408984.7:c.-3G=
ENSP00000386161.3:n.-3G=
ENST00000539474.6:c.-3G=
ENSP00000445210.2:n.-3G=
ENST00000561846.5:n.42G=
ENST00000562214.5:n.121G=
ENST00000565562.5:n.43G=
ENST00000566662.5:c.-3G=
ENSP00000454331.1:n.-3G=
ENST00000566780.5:c.-3G=
ENSP00000457230.1:n.-3G=
ENST00000569332.5:c.-3G=
ENSP00000454788.1:n.-3G=
ENST00000569818.1:c.-3G=
ENSP00000454485.1:n.-3G=
ENST00000627394.2:c.-3G=
ENSP00000485925.1:n.-3G=
NM_001291997.1:c.-277G=
NP_001278926.1:n.-277G=
NM_016373.3:c.-3G=
NP_057457.1:n.-3G=
NM_130791.3:c.-3G=
NP_570607.1:n.-3G=
NR_120435.1:n.364G=
NR_120436.1:n.364G=
XM_006721195.2:c.-3G=
XP_006721258.1:n.-3G=
XM_011523100.1:c.-3G=
XP_011521402.1:n.-3G=
XM_011523101.1:c.-3G=
XP_011521403.1:n.-3G=
XM_011523102.1:c.-3G=
XP_011521404.1:n.-3G=
XM_011523103.1:c.-3G=
XP_011521405.1:n.-3G=
XM_011523104.1:c.-3G=
XP_011521406.1:n.-3G=
XM_011523105.1:c.-3G=
XP_011521407.1:n.-3G=
XM_011523101.3:c.-3G=
XP_011521403.1:n.-3G=
XM_011523103.3:c.-3G=
XP_011521405.1:n.-3G=
XM_011523104.3:c.-3G=
XP_011521406.1:n.-3G=
XM_011523105.3:c.-3G=
XP_011521407.1:n.-3G=
XM_017023278.2:c.-3G=
XP_016878767.1:n.-3G=
NM_016373.4:c.-3G=
MANE Select
NP_057457.1:n.-3G=
NM_001291997.2:c.-277G=
NP_001278926.1:n.-277G=
NM_130791.4:c.-3G=
NP_570607.1:n.-3G=
NR_120435.2:n.123G=
NR_120436.2:n.123G=
NM_130791.5:c.-3G=
NP_570607.1:n.-3G=
NR_120436.3:n.123G=