Canonical Allele Identifier: CA1457434071

Gene: SGCB

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52038094_52038100delinsCGATCGG , CM000666.2:g.52038094_52038100delinsCGATCGG	GRCh38
NC_000004.11:g.52904260_52904266delinsCGATCGG , CM000666.1:g.52904260_52904266delinsCGATCGG	GRCh37
NC_000004.10:g.52599017_52599023delinsCGATCGG	NCBI36
NG_008891.1:g.5220_5226delinsCCGATCG , LRG_204:g.5220_5226delinsCCGATCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.33+127_33+133delinsCCGATCG MANE Select	ENSP00000370839.6:n.33+127_33+133delinsCCGATCG
ENST00000381431.9:c.33+127_33+133delinsCCGATCG	ENSP00000370839.5:n.33+127_33+133delinsCCGATCG
ENST00000506357.5:c.19+127_19+133delinsCCGATCG
NM_000232.4:c.33+127_33+133delinsCCGATCG , LRG_204t1:c.33+127_33+133delinsCCGATCG	NP_000223.1:n.33+127_33+133delinsCCGATCG
XM_011534403.1:c.33+127_33+133delinsCCGATCG	XP_011532705.1:n.33+127_33+133delinsCCGATCG
NM_000232.5:c.33+127_33+133delinsCCGATCG MANE Select	NP_000223.1:n.33+127_33+133delinsCCGATCG