Canonical Allele Identifier: CA1457431732

Gene: SGCB

Linked Data

• dbSNP Id: rs1737302386

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033458_52033459dup , CM000666.2:g.52033458_52033459dup	GRCh38
NC_000004.11:g.52899624_52899625dup , CM000666.1:g.52899624_52899625dup	GRCh37
NC_000004.10:g.52594381_52594382dup	NCBI36
NG_008891.1:g.9862_9863dup , LRG_204:g.9862_9863dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.216_217dup MANE Select	ENSP00000370839.6:p.Phe73CysfsTer9
ENST00000381431.9:c.216_217dup	ENSP00000370839.5:p.Phe73CysfsTer9
ENST00000506357.5:c.202_203dup
ENST00000514133.1:c.183_184dup	ENSP00000425818.1:p.Phe62CysfsTer9
NM_000232.4:c.216_217dup , LRG_204t1:c.216_217dup	NP_000223.1:p.Phe73CysfsTer9
XM_006714049.2:c.-192_-191dup	XP_006714112.1:n.-192_-191dup
XM_011534403.1:c.34-3595_34-3594dup	XP_011532705.1:n.34-3595_34-3594dup
XM_011534404.1:c.-169_-168dup	XP_011532706.1:n.-169_-168dup
NM_000232.5:c.216_217dup MANE Select	NP_000223.1:p.Phe73CysfsTer9