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SERVICES INTERRUPTION - MAINTENANCE: 2026-06-27T10:00:00-0500 — 2026-06-27T14:00:00-0500 Multiple UI & API services will be unavailable during this window, including those of Allele Registry, CSpec, ERepo, LDH, and ACI. The maintenance will upgrade a key machine used by these services. The interruptions are expected to be shorter than the full maintenance activity window.
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.17237171C>G , CM000679.2:g.17237171C>G
GRCh38
NC_000017.10:g.17140485C>G , CM000679.1:g.17140485C>G
GRCh37
NC_000017.9:g.17081210C>G
NCBI36
NG_008001.2:g.5018G>C , LRG_325:g.5018G>C
Transcript Alleles
HGVS
Amino-acid Change
NM_001353229.1:c.-695G>C
NP_001340158.1:n.-695G>C
NM_001353230.1:c.-770G>C
NP_001340159.1:n.-770G>C
NM_001353231.1:c.-686G>C
NP_001340160.1:n.-686G>C
NM_144606.5:c.-487G>C
NP_653207.1:n.-487G>C
NM_144606.6:c.-487G>C
NP_653207.1:n.-487G>C
NM_144997.5:c.-487G>C , LRG_325t1:c.-487G>C
NP_659434.2:n.-487G>C
NM_144997.6:c.-487G>C
NP_659434.2:n.-487G>C
ENST00000389171.4:n.18G>C
ENST00000417064.1:c.-287G>C
ENSP00000410410.1:n.-287G>C
ENST00000427497.3:c.-487G>C
ENSP00000394249.3:n.-487G>C
XM_011523714.1:c.-487G>C
XP_011522016.1:n.-487G>C
XM_011523714.3:c.-487G>C
XP_011522016.1:n.-487G>C
XM_011523715.1:c.-1231G>C
XP_011522017.1:n.-1231G>C
XM_011523717.1:c.-1147G>C
XP_011522019.1:n.-1147G>C
XM_011523718.1:c.-398G>C
XP_011522020.1:n.-398G>C
XM_011523719.3:c.-487G>C
XP_011522021.1:n.-487G>C
XM_017024309.2:c.-487G>C
XP_016879798.1:n.-487G>C
XR_001752445.2:n.18G>C