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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 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.
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.8797881A= , CM000678.2:g.8797881A=
GRCh38
NC_000016.9:g.8891738A= , CM000678.1:g.8891738A=
GRCh37
NC_000016.8:g.8799239A=
NCBI36
NG_009209.1:g.5069A=
NG_033146.1:g.4768T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682008.1:c.-2A=
ENSP00000507849.1:n.-2A=
ENST00000682393.1:c.-2A=
ENSP00000506774.1:n.-2A=
ENST00000683094.1:c.-2A=
ENSP00000508230.1:n.-2A=
ENST00000683274.1:c.-2A=
ENSP00000507262.1:n.-2A=
ENST00000683435.1:c.-2A=
ENSP00000508092.1:n.-2A=
ENST00000268261.9:c.-2A=
MANE Select
ENSP00000268261.4:n.-2A=
ENST00000268261.8:c.-2A=
ENSP00000268261.4:n.-2A=
ENST00000562318.5:c.-2A=
ENSP00000454395.1:n.-2A=
ENST00000562448.1:n.40A=
ENST00000564030.5:n.61A=
ENST00000565221.5:c.-2A=
ENSP00000457932.1:n.-2A=
ENST00000565896.5:c.-2A=
ENSP00000456024.1:n.-2A=
ENST00000566196.5:n.43A=
ENST00000566540.5:c.-2A=
ENSP00000454284.1:n.-2A=
ENST00000566604.5:c.-2A=
ENSP00000456774.1:n.-2A=
ENST00000566983.5:c.-15-3918A=
ENSP00000457956.1:n.-15-3918A=
ENST00000568602.5:c.-2A=
ENSP00000455066.1:n.-2A=
ENST00000569958.5:c.-2A=
ENSP00000456302.1:n.-2A=
ENST00000570076.5:c.-2A=
ENSP00000456961.1:n.-2A=
ENST00000570134.5:c.-2A=
ENSP00000456275.1:n.-2A=
NM_000303.2:c.-2A=
NP_000294.1:n.-2A=
XM_005255372.3:c.-2A=
XP_005255429.1:n.-2A=
XM_005255373.3:c.-174A=
XP_005255430.1:n.-174A=
XM_005255374.3:c.-174A=
XP_005255431.1:n.-174A=
XM_011522538.1:c.-2A=
XP_011520840.1:n.-2A=
XM_005255374.4:c.-174A=
XP_005255431.1:n.-174A=
NM_000303.3:c.-2A=
MANE Select
NP_000294.1:n.-2A=