Canonical Allele Identifier: CA439274680

Gene: SGCB

Linked Data

• gnomAD v4: 4-52033452-GATAAACAA-G
• MyVariant Identifiers: chr4:g.52899619_52899626del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033453_52033460del , CM000666.2:g.52033453_52033460del	GRCh38
NC_000004.11:g.52899619_52899626del , CM000666.1:g.52899619_52899626del	GRCh37
NC_000004.10:g.52594376_52594383del	NCBI36
NG_008891.1:g.9860_9867del , LRG_204:g.9860_9867del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.214_221del MANE Select	ENSP00000370839.6:p.Leu72ProfsTer24
ENST00000381431.9:c.214_221del	ENSP00000370839.5:p.Leu72ProfsTer24
ENST00000506357.5:c.200_207del
ENST00000514133.1:c.181_188del	ENSP00000425818.1:p.Leu61ProfsTer24
NM_000232.4:c.214_221del , LRG_204t1:c.214_221del	NP_000223.1:p.Leu72ProfsTer24
XM_006714049.2:c.-194_-187del	XP_006714112.1:n.-194_-187del
XM_011534403.1:c.34-3597_34-3590del	XP_011532705.1:n.34-3597_34-3590del
XM_011534404.1:c.-171_-164del	XP_011532706.1:n.-171_-164del
NM_000232.5:c.214_221del MANE Select	NP_000223.1:p.Leu72ProfsTer24