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OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400 The first of two essential broad service outages will occur over the weekend. The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned. Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.148458765G>T , CM000664.2:g.148458765G>T
GRCh38
NC_000002.11:g.149216334G>T , CM000664.1:g.149216334G>T
GRCh37
NC_000002.10:g.148932804G>T
NCBI36
NG_017003.1:g.442755G>T
NG_017003.2:g.442755G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000637159.1:c.7G>T
ENSP00000490140.1:p.Gly3Ter
ENST00000638043.2:c.7G>T
ENSP00000490728.2:p.Gly3Ter
ENST00000642680.2:c.7G>T
MANE Select
ENSP00000493871.2:p.Gly3Ter
ENST00000404807.5:c.7G>T
ENSP00000384672.1:p.Gly3Ter
ENST00000407073.5:c.7G>T
ENSP00000386049.1:p.Gly3Ter
ENST00000627651.2:c.7G>T
ENSP00000486370.1:p.Gly3Ter
ENST00000629878.2:c.7G>T
ENSP00000487089.1:p.Gly3Ter
NM_018328.4:c.7G>T
NP_060798.2:p.Gly3Ter
XM_005263711.2:c.7G>T
XP_005263768.1:p.Gly3Ter
XM_011511470.1:c.7G>T
XP_011509772.1:p.Gly3Ter
XM_011511471.1:c.7G>T
XP_011509773.1:p.Gly3Ter
XM_011511472.1:c.7G>T
XP_011509774.1:p.Gly3Ter
XM_011511473.1:c.7G>T
XP_011509775.1:p.Gly3Ter
XM_011511474.1:c.7G>T
XP_011509776.1:p.Gly3Ter
XM_011511475.1:c.7G>T
XP_011509777.1:p.Gly3Ter
XM_011511476.1:c.7G>T
XP_011509778.1:p.Gly3Ter
XR_922967.1:n.1236G>T
XM_011511470.2:c.7G>T
XP_011509772.1:p.Gly3Ter
XM_011511472.2:c.7G>T
XP_011509774.1:p.Gly3Ter
XM_024452987.1:c.7G>T
XP_024308755.1:p.Gly3Ter
XM_024452988.1:c.7G>T
XP_024308756.1:p.Gly3Ter
XM_024452989.1:c.7G>T
XP_024308757.1:p.Gly3Ter
XM_024452990.1:c.7G>T
XP_024308758.1:p.Gly3Ter
XR_002959318.1:n.319G>T
XR_002959319.1:n.319G>T
NM_001378120.1:c.7G>T
MANE Select
NP_001365049.1:p.Gly3Ter
NM_018328.5:c.7G>T
NP_060798.2:p.Gly3Ter