Allele Registry

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_000003.12:g.10142032_10142040delinsAGCA , CM000665.2:g.10142032_10142040delinsAGCA	GRCh38
NC_000003.11:g.10183716_10183724delinsAGCA , CM000665.1:g.10183716_10183724delinsAGCA	GRCh37
NC_000003.10:g.10158716_10158724delinsAGCA	NCBI36
NG_008212.3:g.5398_5406delinsAGCA , LRG_322:g.5398_5406delinsAGCA

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.185_193delinsAGCA MANE Select	NP_000542.1:p.Val62GlufsTer?
ENST00000256474.3:c.185_193delinsAGCA MANE Select	ENSP00000256474.3:p.Val62GlufsTer?
NM_000551.3:c.185_193delinsAGCA , LRG_322t1:c.185_193delinsAGCA	NP_000542.1:p.Val62GlufsTer?
NM_001354723.1:c.185_193delinsAGCA	NP_001341652.1:p.Val62GlufsTer?
NM_001354723.2:c.185_193delinsAGCA	NP_001341652.1:p.Val62GlufsTer?
NM_198156.2:c.185_193delinsAGCA	NP_937799.1:p.Val62GlufsTer?
NM_198156.3:c.185_193delinsAGCA	NP_937799.1:p.Val62GlufsTer?
ENST00000256474.2:c.185_193delinsAGCA	ENSP00000256474.2:p.Val62GlufsTer?
ENST00000345392.2:c.185_193delinsAGCA	ENSP00000344757.2:p.Val62GlufsTer?
ENST00000696142.1:c.185_193delinsAGCA	ENSP00000512434.1:p.Val62GlufsTer?
ENST00000696143.1:c.185_193delinsAGCA	ENSP00000512435.1:p.Val62GlufsTer?
ENST00000696153.1:c.185_193delinsAGCA	ENSP00000512444.1:p.Val62GlufsTer?
XM_011534078.1:c.185_193delinsAGCA	XP_011532380.1:p.Val62GlufsTer?