Canonical Allele Identifier: CA649369308

Gene: SGCB

Linked Data

• gnomAD v4: 4-52033382-TA-T
• COSMIC: COSN1298150

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033388del , CM000666.2:g.52033388del	GRCh38
NC_000004.11:g.52899554del , CM000666.1:g.52899554del	GRCh37
NC_000004.10:g.52594311del	NCBI36
NG_008891.1:g.9937del , LRG_204:g.9937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.243+48del MANE Select	ENSP00000370839.6:n.243+48del
ENST00000381431.9:c.243+48del	ENSP00000370839.5:n.243+48del
ENST00000506357.5:c.229+48del
ENST00000514133.1:c.210+48del	ENSP00000425818.1:n.210+48del
NM_000232.4:c.243+48del , LRG_204t1:c.243+48del	NP_000223.1:n.243+48del
XM_006714049.2:c.-165+48del	XP_006714112.1:n.-165+48del
XM_011534403.1:c.34-3520del	XP_011532705.1:n.34-3520del
XM_011534404.1:c.-142+48del	XP_011532706.1:n.-142+48del
NM_000232.5:c.243+48del MANE Select	NP_000223.1:n.243+48del