Canonical Allele Identifier: CA2918479

Gene: SGCB

Linked Data

• dbSNP Id: rs371913895
• ExAC: 4:52899548 TAAA / T
• gnomAD v2: 4-52899548-TAAA-T
• gnomAD v3: 4-52033382-TAAA-T
• gnomAD v4: 4-52033382-TAAA-T
• MyVariant Identifiers: chr4:g.52899549_52899551del (hg19) ; chr4:g.52033383_52033385del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033386_52033388del , CM000666.2:g.52033386_52033388del	GRCh38
NC_000004.11:g.52899552_52899554del , CM000666.1:g.52899552_52899554del	GRCh37
NC_000004.10:g.52594309_52594311del	NCBI36
NG_008891.1:g.9935_9937del , LRG_204:g.9935_9937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.243+46_243+48del MANE Select	ENSP00000370839.6:n.243+46_243+48del
ENST00000381431.9:c.243+46_243+48del	ENSP00000370839.5:n.243+46_243+48del
ENST00000506357.5:c.229+46_229+48del
ENST00000514133.1:c.210+46_210+48del	ENSP00000425818.1:n.210+46_210+48del
NM_000232.4:c.243+46_243+48del , LRG_204t1:c.243+46_243+48del	NP_000223.1:n.243+46_243+48del
XM_006714049.2:c.-165+46_-165+48del	XP_006714112.1:n.-165+46_-165+48del
XM_011534403.1:c.34-3522_34-3520del	XP_011532705.1:n.34-3522_34-3520del
XM_011534404.1:c.-142+46_-142+48del	XP_011532706.1:n.-142+46_-142+48del
NM_000232.5:c.243+46_243+48del MANE Select	NP_000223.1:n.243+46_243+48del