Allele Registry

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_000001.11:g.68429679_68429680insACTTCCTCTGT , CM000663.2:g.68429679_68429680insACTTCCTCTGT	GRCh38
NC_000001.10:g.68895362_68895363insACTTCCTCTGT , CM000663.1:g.68895362_68895363insACTTCCTCTGT	GRCh37
NC_000001.9:g.68667950_68667951insACTTCCTCTGT	NCBI36
NG_008472.1:g.25281_25282insCAGAGGAAGTA
NG_008472.2:g.25281_25282insCAGAGGAAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.97_98insCAGAGGAAGTA MANE Select	ENSP00000262340.5:n.97_98insCAGAGGAAGTA
ENST00000262340.5:c.97_98insCAGAGGAAGTA	ENSP00000262340.5:n.97_98insCAGAGGAAGTA
NM_000329.2:c.97_98insCAGAGGAAGTA	NP_000320.1:n.97_98insCAGAGGAAGTA
XM_017002027.1:c.97_98insCAGAGGAAGTA	XP_016857516.1:n.97_98insCAGAGGAAGTA
NM_000329.3:c.97_98insCAGAGGAAGTA MANE Select	NP_000320.1:n.97_98insCAGAGGAAGTA

HGVS	Amino-acid Change
ENST00000262340.6:c.97_98insCAGAGGAAGTA MANE Select	ENSP00000262340.5:n.97_98insCAGAGGAAGTA
ENST00000262340.5:c.97_98insCAGAGGAAGTA	ENSP00000262340.5:n.97_98insCAGAGGAAGTA
NM_000329.2:c.97_98insCAGAGGAAGTA	NP_000320.1:n.97_98insCAGAGGAAGTA
XM_017002027.1:c.97_98insCAGAGGAAGTA	XP_016857516.1:n.97_98insCAGAGGAAGTA
NM_000329.3:c.97_98insCAGAGGAAGTA MANE Select	NP_000320.1:n.97_98insCAGAGGAAGTA