Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.

ALLELE REGISTRY - SERVICE INTERRUPTION2024-08-10T11:00:00-0500 — 2024-08-10T15:00:00-0500
The ClinGen Allele Registry will have an off-hours outage to perform maintenance tasks.
The outage will not take the entire interruption period.

ClinGen Allele Registry

Canonical Allele Identifier: CA1032992375

Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs1672514232

gnomAD v3: 2-84425204-AAAG-A

gnomAD v4: 2-84425204-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84425210_84425212del , CM000664.2:g.84425210_84425212del	GRCh38
NC_000002.11:g.84652334_84652336del , CM000664.1:g.84652334_84652336del	GRCh37
NC_000002.10:g.84505845_84505847del	NCBI36
NG_016755.1:g.39256_39258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393868.7:c.1014+208_1014+210del MANE Select	ENSP00000377446.2:n.1014+208_1014+210del
ENST00000651342.1:c.454+208_454+210del	ENSP00000498471.1:n.454+208_454+210del
ENST00000393868.6:c.1014+208_1014+210del	ENSP00000377446.2:n.1014+208_1014+210del
ENST00000484365.1:n.1522+208_1522+210del
ENST00000491123.5:n.860+208_860+210del
NM_003849.3:c.1014+208_1014+210del	NP_003840.2:n.1014+208_1014+210del
NM_003849.4:c.1014+208_1014+210del MANE Select	NP_003840.2:n.1014+208_1014+210del