Canonical Allele Identifier: CA2670614323

Gene: SGCB

Linked Data

• gnomAD v4: 4-52038093-C-CCCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52038094_52038095insCTAC , CM000666.2:g.52038094_52038095insCTAC	GRCh38
NC_000004.11:g.52904260_52904261insCTAC , CM000666.1:g.52904260_52904261insCTAC	GRCh37
NC_000004.10:g.52599017_52599018insCTAC	NCBI36
NG_008891.1:g.5226_5227insTAGG , LRG_204:g.5226_5227insTAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.33+133_33+134insTAGG MANE Select	ENSP00000370839.6:n.33+133_33+134insTAGG
ENST00000381431.9:c.33+133_33+134insTAGG	ENSP00000370839.5:n.33+133_33+134insTAGG
ENST00000506357.5:c.19+133_19+134insTAGG
NM_000232.4:c.33+133_33+134insTAGG , LRG_204t1:c.33+133_33+134insTAGG	NP_000223.1:n.33+133_33+134insTAGG
XM_011534403.1:c.33+133_33+134insTAGG	XP_011532705.1:n.33+133_33+134insTAGG
NM_000232.5:c.33+133_33+134insTAGG MANE Select	NP_000223.1:n.33+133_33+134insTAGG