Canonical Allele Identifier: CA551651123

Gene: SGCB

Linked Data

• dbSNP Id: rs1156430508
• gnomAD v2: 4-52899463-ATAAAG-A
• gnomAD v3: 4-52033297-ATAAAG-A
• gnomAD v4: 4-52033297-ATAAAG-A
• MyVariant Identifiers: chr4:g.52899464_52899468del (hg19) ; chr4:g.52033298_52033302del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033300_52033304del , CM000666.2:g.52033300_52033304del	GRCh38
NC_000004.11:g.52899466_52899470del , CM000666.1:g.52899466_52899470del	GRCh37
NC_000004.10:g.52594223_52594227del	NCBI36
NG_008891.1:g.10018_10022del , LRG_204:g.10018_10022del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.243+129_243+133del MANE Select	ENSP00000370839.6:n.243+129_243+133del
ENST00000381431.9:c.243+129_243+133del	ENSP00000370839.5:n.243+129_243+133del
ENST00000506357.5:c.229+129_229+133del
ENST00000514133.1:c.210+129_210+133del	ENSP00000425818.1:n.210+129_210+133del
NM_000232.4:c.243+129_243+133del , LRG_204t1:c.243+129_243+133del	NP_000223.1:n.243+129_243+133del
XM_006714049.2:c.-165+129_-165+133del	XP_006714112.1:n.-165+129_-165+133del
XM_011534403.1:c.34-3439_34-3435del	XP_011532705.1:n.34-3439_34-3435del
XM_011534404.1:c.-142+129_-142+133del	XP_011532706.1:n.-142+129_-142+133del
NM_000232.5:c.243+129_243+133del MANE Select	NP_000223.1:n.243+129_243+133del