Canonical Allele Identifier: CA2670614282

Gene: SGCB

Linked Data

• gnomAD v4: 4-52038082-C-CCCCCCCCCCCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52038084_52038085insCCCCCCCCCCCCACC , CM000666.2:g.52038084_52038085insCCCCCCCCCCCCACC	GRCh38
NC_000004.11:g.52904250_52904251insCCCCCCCCCCCCACC , CM000666.1:g.52904250_52904251insCCCCCCCCCCCCACC	GRCh37
NC_000004.10:g.52599007_52599008insCCCCCCCCCCCCACC	NCBI36
NG_008891.1:g.5237_5238insTGGGGGGGGGGGGGG , LRG_204:g.5237_5238insTGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.33+144_33+145insTGGGGGGGGGGGGGG MANE Select	ENSP00000370839.6:n.33+144_33+145insTGGGGGGGGGGGGGG
ENST00000381431.9:c.33+144_33+145insTGGGGGGGGGGGGGG	ENSP00000370839.5:n.33+144_33+145insTGGGGGGGGGGGGGG
ENST00000506357.5:c.19+144_19+145insTGGGGGGGGGGGGGG
NM_000232.4:c.33+144_33+145insTGGGGGGGGGGGGGG , LRG_204t1:c.33+144_33+145insTGGGGGGGGGGGGGG	NP_000223.1:n.33+144_33+145insTGGGGGGGGGGGGGG
XM_011534403.1:c.33+144_33+145insTGGGGGGGGGGGGGG	XP_011532705.1:n.33+144_33+145insTGGGGGGGGGGGGGG
NM_000232.5:c.33+144_33+145insTGGGGGGGGGGGGGG MANE Select	NP_000223.1:n.33+144_33+145insTGGGGGGGGGGGGGG