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.68431274_68431275insCCCTTTCCTGA , CM000663.2:g.68431274_68431275insCCCTTTCCTGA	GRCh38
NC_000001.10:g.68896957_68896958insCCCTTTCCTGA , CM000663.1:g.68896957_68896958insCCCTTTCCTGA	GRCh37
NC_000001.9:g.68669545_68669546insCCCTTTCCTGA	NCBI36
NG_008472.1:g.23685_23686insTCAGGAAAGGG
NG_008472.2:g.23685_23686insTCAGGAAAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1338+7_1338+8insTCAGGAAAGGG MANE Select	ENSP00000262340.5:n.1338+7_1338+8insTCAGGAAAGGG
ENST00000262340.5:c.1338+7_1338+8insTCAGGAAAGGG	ENSP00000262340.5:n.1338+7_1338+8insTCAGGAAAGGG
NM_000329.2:c.1338+7_1338+8insTCAGGAAAGGG	NP_000320.1:n.1338+7_1338+8insTCAGGAAAGGG
XM_017002027.1:c.1062+7_1062+8insTCAGGAAAGGG	XP_016857516.1:n.1062+7_1062+8insTCAGGAAAGGG
NM_000329.3:c.1338+7_1338+8insTCAGGAAAGGG MANE Select	NP_000320.1:n.1338+7_1338+8insTCAGGAAAGGG