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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_000017.11:g.81933212T= , CM000679.2:g.81933212T=
GRCh38
NC_000017.10:g.79891088T= , CM000679.1:g.79891088T=
GRCh37
NC_000017.9:g.77484379T=
NCBI36
NG_023032.1:g.8881A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000329875.13:c.*2A=
MANE Select
ENSP00000328858.8:n.*2A=
ENST00000329875.12:c.*2A=
ENSP00000328858.8:n.*2A=
ENST00000337943.9:c.867+95A=
ENSP00000336579.5:n.867+95A=
ENST00000402252.6:c.*2A=
ENSP00000384949.2:n.*2A=
ENST00000403172.8:c.*2A=
ENSP00000385483.4:n.*2A=
ENST00000577756.5:c.*144A=
ENSP00000463352.1:n.*144A=
ENST00000584848.5:c.666A=
ENSP00000463342.1:n.666A=
ENST00000619204.4:c.*2A=
ENSP00000479793.1:n.*2A=
ENST00000629768.2:c.*144A=
ENSP00000485679.1:n.*144A=
NM_001282279.1:c.*2A=
NP_001269208.1:n.*2A=
NM_001282280.1:c.*2A=
NP_001269209.1:n.*2A=
NM_001282281.1:c.*2A=
NP_001269210.1:n.*2A=
NM_006907.3:c.*2A=
NP_008838.2:n.*2A=
NM_153824.2:c.867+95A=
NP_722546.1:n.867+95A=
XM_005256381.1:c.*2A=
XP_005256438.1:n.*2A=
XM_011523583.1:c.*2A=
XP_011521885.1:n.*2A=
XM_011523584.1:c.*2A=
XP_011521886.1:n.*2A=
XM_011523585.1:c.*144A=
XP_011521887.1:n.*144A=
NM_001330523.1:c.*144A=
NP_001317452.1:n.*144A=
XM_005256381.2:c.*2A=
XP_005256438.1:n.*2A=
XM_011523583.2:c.*2A=
XP_011521885.1:n.*2A=
XM_011523584.3:c.*2A=
XP_011521886.1:n.*2A=
XM_011523585.2:c.*144A=
XP_011521887.1:n.*144A=
XM_024450849.1:c.*2A=
XP_024306617.1:n.*2A=
NM_001282279.2:c.*2A=
NP_001269208.1:n.*2A=
NM_001282281.2:c.*2A=
NP_001269210.1:n.*2A=
NM_006907.4:c.*2A=
MANE Select
NP_008838.2:n.*2A=
NM_153824.3:c.867+95A=
NP_722546.1:n.867+95A=
NM_001282280.2:c.*2A=
NP_001269209.1:n.*2A=
NM_001330523.2:c.*144A=
NP_001317452.1:n.*144A=