Canonical Allele Identifier: CA893840743

Gene: SUCLG1

Linked Data

• dbSNP Id: rs1287254623
• gnomAD v3: 2-84425299-C-CAT
• gnomAD v4: 2-84425299-C-CAT
• MyVariant Identifiers: chr2:g.84652423_84652424insAT (hg19) ; chr2:g.84425299_84425300insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84425300_84425301dup , CM000664.2:g.84425300_84425301dup	GRCh38
NC_000002.11:g.84652424_84652425dup , CM000664.1:g.84652424_84652425dup	GRCh37
NC_000002.10:g.84505935_84505936dup	NCBI36
NG_016755.1:g.39162_39163dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393868.7:c.1014+114_1014+115dup MANE Select	ENSP00000377446.2:n.1014+114_1014+115dup
ENST00000651342.1:c.*454+114_*454+115dup	ENSP00000498471.1:n.*454+114_*454+115dup
ENST00000393868.6:c.1014+114_1014+115dup	ENSP00000377446.2:n.1014+114_1014+115dup
ENST00000484365.1:n.1522+114_1522+115dup
ENST00000491123.5:n.860+114_860+115dup
NM_003849.3:c.1014+114_1014+115dup	NP_003840.2:n.1014+114_1014+115dup
NM_003849.4:c.1014+114_1014+115dup MANE Select	NP_003840.2:n.1014+114_1014+115dup