Canonical Allele Identifier: CA2918510

Gene: SGCB

Linked Data

• dbSNP Id: rs747471729
• ExAC: 4:52899762 A / AT
• MyVariant Identifiers: chr4:g.52899762_52899763insT (hg19) ; chr4:g.52033596_52033597insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033596_52033597insT , CM000666.2:g.52033596_52033597insT	GRCh38
NC_000004.11:g.52899762_52899763insT , CM000666.1:g.52899762_52899763insT	GRCh37
NC_000004.10:g.52594519_52594520insT	NCBI36
NG_008891.1:g.9723_9724insA , LRG_204:g.9723_9724insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.77_78insA MANE Select	ENSP00000370839.6:p.Val27CysfsTer2
ENST00000381431.9:c.77_78insA	ENSP00000370839.5:p.Val27CysfsTer2
ENST00000506357.5:c.63_64insA
ENST00000514133.1:c.44_45insA	ENSP00000425818.1:p.Val16CysfsTer2
NM_000232.4:c.77_78insA , LRG_204t1:c.77_78insA	NP_000223.1:p.Val27CysfsTer2
XM_011534403.1:c.34-3734_34-3733insA	XP_011532705.1:n.34-3734_34-3733insA
NM_000232.5:c.77_78insA MANE Select	NP_000223.1:p.Val27CysfsTer2