Canonical Allele Identifier: CA2573137890

Gene: SGCB

Linked Data

• ClinVar Variation Id: 1451596
• ClinVar RCV Id: RCV002007307
• dbSNP Id: rs2109369924

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52027985_52027986del , CM000666.2:g.52027985_52027986del	GRCh38
NC_000004.11:g.52894151_52894152del , CM000666.1:g.52894151_52894152del	GRCh37
NC_000004.10:g.52588908_52588909del	NCBI36
NG_008891.1:g.15334_15335del , LRG_204:g.15334_15335del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.735_736del MANE Select	ENSP00000370839.6:p.Asn246TyrfsTer?
ENST00000381431.9:c.735_736del	ENSP00000370839.5:p.Asn246TyrfsTer?
NM_000232.4:c.735_736del , LRG_204t1:c.735_736del	NP_000223.1:p.Asn246TyrfsTer?
XM_006714049.2:c.438_439del	XP_006714112.1:p.Asn147TyrfsTer?
XM_011534403.1:c.525_526del	XP_011532705.1:p.Asn176TyrfsTer?
XM_011534404.1:c.438_439del	XP_011532706.1:p.Asn147TyrfsTer?
NM_000232.5:c.735_736del MANE Select	NP_000223.1:p.Asn246TyrfsTer?