Canonical Allele Identifier: CA796082574

Gene: SGCB

Linked Data

• dbSNP Id: rs1433255341
• gnomAD v3: 4-52033288-G-GT
• gnomAD v4: 4-52033288-G-GT
• MyVariant Identifiers: chr4:g.52899454_52899455insT (hg19) ; chr4:g.52033288_52033289insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033295dup , CM000666.2:g.52033295dup	GRCh38
NC_000004.11:g.52899461dup , CM000666.1:g.52899461dup	GRCh37
NC_000004.10:g.52594218dup	NCBI36
NG_008891.1:g.10031dup , LRG_204:g.10031dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.243+142dup MANE Select	ENSP00000370839.6:n.243+142dup
ENST00000381431.9:c.243+142dup	ENSP00000370839.5:n.243+142dup
ENST00000506357.5:c.229+142dup
ENST00000514133.1:c.210+142dup	ENSP00000425818.1:n.210+142dup
NM_000232.4:c.243+142dup , LRG_204t1:c.243+142dup	NP_000223.1:n.243+142dup
XM_006714049.2:c.-165+142dup	XP_006714112.1:n.-165+142dup
XM_011534403.1:c.34-3426dup	XP_011532705.1:n.34-3426dup
XM_011534404.1:c.-142+142dup	XP_011532706.1:n.-142+142dup
NM_000232.5:c.243+142dup MANE Select	NP_000223.1:n.243+142dup