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_000007.14:g.[107710132A>G;107715429C>G] , CM000669.2:g.[107710132A>G;107715429C>G]	GRCh38
NC_000007.13:g.[107350577A>G;107355874C>G] , CM000669.1:g.[107350577A>G;107355874C>G]	GRCh37
NC_000007.12:g.[107137813A>G;107143110C>G]	NCBI36
NG_008489.1:g.[54498A>G;59795C>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644269.2:c.[2168A>G;2326C>G] MANE Select	ENSP00000494017.1:p.[His723Arg;Arg776Gly]
ENST00000644846.1:c.[824A>G;982C>G]
ENST00000265715.7:c.[2168A>G;2326C>G]	ENSP00000265715.3:p.[His723Arg;Arg776Gly]
ENST00000492030.2:n.[377-23A>G;512C>G]
NM_000441.1:c.[2168A>G;2326C>G]	NP_000432.1:p.[His723Arg;Arg776Gly]
XM_005250425.1:c.[2168A>G;2326C>G]	XP_005250482.1:p.[His723Arg;Arg776Gly]
XM_005250425.2:c.[2168A>G;2326C>G]	XP_005250482.1:p.[His723Arg;Arg776Gly]
XM_017012318.1:c.[2090A>G;2248C>G]	XP_016867807.1:p.[His697Arg;Arg750Gly]
NM_000441.2:c.[2168A>G;2326C>G] MANE Select	NP_000432.1:p.[His723Arg;Arg776Gly]