Canonical Allele Identifier: CA1736428

Gene: SUCLG1

Linked Data

• ClinVar Variation Id: 403502
• ClinVar RCV Id: RCV000455752 ; RCV001637030
• dbSNP Id: rs56733272
• ExAC: 2:84676886 TAAAAA / T
• gnomAD v2: 2-84676886-TAAAAA-T
• gnomAD v3: 2-84449762-TAAAAA-T
• gnomAD v4: 2-84449762-TAAAAA-T
• MyVariant Identifiers: chr2:g.84676891_84676895del (hg19) ; chr2:g.84676889_84676893del (hg19) ; chr2:g.84676888_84676892del (hg19) ; chr2:g.84676887_84676891del (hg19) ; chr2:g.84449764_84449768del (hg38) ; chr2:g.84449763_84449767del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.84449783_84449787del , CM000664.2:g.84449783_84449787del	GRCh38
NC_000002.11:g.84676907_84676911del , CM000664.1:g.84676907_84676911del	GRCh37
NC_000002.10:g.84530418_84530422del	NCBI36
NG_016755.1:g.14696_14700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393868.7:c.98-15_98-11del MANE Select	ENSP00000377446.2:n.98-15_98-11del
ENST00000651342.1:c.98-15_98-11del	ENSP00000498471.1:n.98-15_98-11del
ENST00000393868.6:c.98-15_98-11del	ENSP00000377446.2:n.98-15_98-11del
ENST00000430989.1:n.75-15_75-11del
ENST00000442240.5:c.90-15_90-11del
ENST00000483605.5:n.177-15_177-11del
ENST00000491642.5:n.270-15_270-11del
NM_003849.3:c.98-15_98-11del	NP_003840.2:n.98-15_98-11del
NM_003849.4:c.98-15_98-11del MANE Select	NP_003840.2:n.98-15_98-11del