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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_000011.10:g.69078734del , CM000673.2:g.69078734del
GRCh38
NC_000011.9:g.68846202del , CM000673.1:g.68846202del
GRCh37
NC_000011.8:g.68602778del
NCBI36
NG_016153.1:g.34853del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000692585.1:c.208del
ENST00000294309.8:c.1351del
ENST00000635811.1:c.1351del
ENST00000637084.1:c.208del
ENST00000637342.1:c.1351del
ENST00000637504.1:c.1351del
ENST00000294309.7:c.1351del
ENST00000442692.2:n.944del
ENST00000535009.5:n.1160del
ENST00000542467.1:c.1351del
NM_139075.3:c.1351del
XM_005273824.2:c.1348del
XM_005273826.2:c.1096del
XM_005273827.2:c.1351del
XM_005273828.2:c.1351del
XM_005273830.2:c.658del
XM_005273831.2:c.658del
XM_005273832.2:c.628del
XM_006718453.2:c.1351del
XM_006718454.2:c.1351del
XM_006718456.2:c.1351del
XM_011544802.1:c.1111del
XM_011544803.1:c.1351del
XM_011544804.1:c.1351del
XM_011544805.1:c.1351del
XM_011544806.1:c.1351del
XM_011544807.1:c.655del
XM_011544808.1:c.520del
XR_247191.1:n.1452del
XM_005273824.4:c.1348del
XM_005273826.4:c.1096del
XM_005273830.4:c.658del
XM_005273831.4:c.658del
XM_005273832.4:c.628del
XM_011544802.3:c.1111del
XM_011544807.3:c.655del
XM_011544808.3:c.520del
XM_017017328.2:c.1182del
XM_017017329.2:c.1179del
XM_017017330.2:c.628del
XM_017017331.2:c.628del
XM_017017332.2:c.442del
XM_017017333.2:c.459del
XM_017017334.2:c.459del
XM_017017335.2:c.459del
XM_017017336.2:c.351del
XM_024448392.1:c.1141del
XM_024448393.1:c.628del
XR_001747789.2:n.1283del
XR_001747790.2:n.1283del
XR_247191.3:n.1455del
NM_139075.4:c.1351del