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.171635840_171635842delinsGGC , CM000663.2:g.171635840_171635842delinsGGC	GRCh38
NC_000001.10:g.171604980_171604982delinsGGC , CM000663.1:g.171604980_171604982delinsGGC	GRCh37
NC_000001.9:g.169871603_169871605delinsGGC	NCBI36
NG_008859.1:g.21792_21794delinsGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.83_85delinsGCC (MYOC) MANE Select	ENSP00000037502.5:n.83_85delinsGCC
ENST00000637303.1:c.235-2790_235-2788delinsGGC (MYOCOS)	ENSP00000490048.1:n.235-2790_235-2788delinsGGC
ENST00000638471.1:c.936_938delinsGCC (MYOC)	ENSP00000491206.1:n.936_938delinsGCC
ENST00000037502.10:c.83_85delinsGCC (MYOC)	ENSP00000037502.5:n.83_85delinsGCC
ENST00000614688.1:c.562_564delinsGCC (MYOC)	ENSP00000478680.1:n.562_564delinsGCC
NM_000261.1:c.83_85delinsGCC (MYOC)	NP_000252.1:n.83_85delinsGCC
NM_000261.2:c.83_85delinsGCC (MYOC) MANE Select	NP_000252.1:n.83_85delinsGCC

HGVS	Amino-acid Change
ENST00000037502.11:c.83_85delinsGCC (MYOC) MANE Select	ENSP00000037502.5:n.83_85delinsGCC
ENST00000637303.1:c.235-2790_235-2788delinsGGC (MYOCOS)	ENSP00000490048.1:n.235-2790_235-2788delinsGGC
ENST00000638471.1:c.936_938delinsGCC (MYOC)	ENSP00000491206.1:n.936_938delinsGCC
ENST00000037502.10:c.83_85delinsGCC (MYOC)	ENSP00000037502.5:n.83_85delinsGCC
ENST00000614688.1:c.562_564delinsGCC (MYOC)	ENSP00000478680.1:n.562_564delinsGCC
NM_000261.1:c.83_85delinsGCC (MYOC)	NP_000252.1:n.83_85delinsGCC
NM_000261.2:c.83_85delinsGCC (MYOC) MANE Select	NP_000252.1:n.83_85delinsGCC