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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_000007.14:g.19117025_19117040delinsACTCCCGCCGCCGCTG , CM000669.2:g.19117025_19117040delinsACTCCCGCCGCCGCTG
GRCh38
NC_000007.13:g.19156648_19156663delinsACTCCCGCCGCCGCTG , CM000669.1:g.19156648_19156663delinsACTCCCGCCGCCGCTG
GRCh37
NC_000007.12:g.19123173_19123188delinsACTCCCGCCGCCGCTG
NCBI36
NG_008114.1:g.5633_5648delinsCAGCGGCGGCGGGAGT
NG_008114.2:g.5633_5648delinsCAGCGGCGGCGGGAGT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242261.6:c.282_297delinsCAGCGGCGGCGGGAGT
MANE Select
ENSP00000242261.5:p.Ser94=
ENST00000242261.5:c.282_297delinsCAGCGGCGGCGGGAGT
ENSP00000242261.5:p.Ser94=
ENST00000354571.5:c.79_94delinsCAGCGGCGGCGGGAGT
NM_000474.3:c.282_297delinsCAGCGGCGGCGGGAGT
NP_000465.1:p.Ser94=
XM_011515496.1:c.282_297delinsCAGCGGCGGCGGGAGT
XP_011513798.1:p.Ser94=
NR_149001.1:n.633_648delinsCAGCGGCGGCGGGAGT
NM_000474.4:c.282_297delinsCAGCGGCGGCGGGAGT
MANE Select
NP_000465.1:p.Ser94=
NR_149001.2:n.597_612delinsCAGCGGCGGCGGGAGT