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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_000017.11:g.17219210C= , CM000679.2:g.17219210C=
GRCh38
NC_000017.10:g.17122524C= , CM000679.1:g.17122524C=
GRCh37
NC_000017.9:g.17063249C=
NCBI36
NG_008001.2:g.22979G= , LRG_325:g.22979G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000285071.9:c.872-1G=
MANE Select
ENSP00000285071.4:n.872-1G=
ENST00000285071.8:c.872-1G=
ENSP00000285071.4:n.872-1G=
ENST00000427497.3:c.149-156G=
ENSP00000394249.3:n.149-156G=
NM_144997.5:c.872-1G= , LRG_325t1:c.872-1G=
NP_659434.2:n.872-1G=
XM_011523714.1:c.926-1G=
XP_011522016.1:n.926-1G=
XM_011523715.1:c.926-1G=
XP_011522017.1:n.926-1G=
XM_011523716.1:c.926-1G=
XP_011522018.1:n.926-1G=
XM_011523717.1:c.926-1G=
XP_011522019.1:n.926-1G=
XM_011523718.1:c.926-1G=
XP_011522020.1:n.926-1G=
XM_011523719.1:c.926-1G=
XP_011522021.1:n.926-1G=
XM_011523720.1:c.650-1G=
XP_011522022.1:n.650-1G=
XM_011523721.1:c.926-1G=
XP_011522023.1:n.926-1G=
XR_934007.1:n.2266-1G=
NM_001353229.1:c.926-1G=
NP_001340158.1:n.926-1G=
NM_001353230.1:c.872-1G=
NP_001340159.1:n.872-1G=
NM_001353231.1:c.872-1G=
NP_001340160.1:n.872-1G=
NM_144997.6:c.872-1G=
NP_659434.2:n.872-1G=
XM_011523714.3:c.926-1G=
XP_011522016.1:n.926-1G=
XM_011523718.3:c.926-1G=
XP_011522020.1:n.926-1G=
XM_011523719.3:c.926-1G=
XP_011522021.1:n.926-1G=
XM_011523721.3:c.926-1G=
XP_011522023.1:n.926-1G=
XM_017024305.2:c.926-1G=
XP_016879794.1:n.926-1G=
XM_017024308.1:c.872-1G=
XP_016879797.1:n.872-1G=
XM_017024309.2:c.650-1G=
XP_016879798.1:n.650-1G=
XM_024450635.1:c.926-1G=
XP_024306403.1:n.926-1G=
XR_001752445.2:n.1430-1G=
NM_144997.7:c.872-1G=
MANE Select
NP_659434.2:n.872-1G=
NM_001353229.2:c.926-1G=
NP_001340158.1:n.926-1G=
NM_001353230.2:c.872-1G=
NP_001340159.1:n.872-1G=
NM_001353231.2:c.872-1G=
NP_001340160.1:n.872-1G=