Canonical Allele Identifier: CA1457433987

Gene: SGCB

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52038002_52038009delinsCCGGGCCG , CM000666.2:g.52038002_52038009delinsCCGGGCCG	GRCh38
NC_000004.11:g.52904168_52904175delinsCCGGGCCG , CM000666.1:g.52904168_52904175delinsCCGGGCCG	GRCh37
NC_000004.10:g.52598925_52598932delinsCCGGGCCG	NCBI36
NG_008891.1:g.5311_5318delinsCGGCCCGG , LRG_204:g.5311_5318delinsCGGCCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.33+218_33+225delinsCGGCCCGG MANE Select	ENSP00000370839.6:n.33+218_33+225delinsCGGCCCGG
ENST00000381431.9:c.33+218_33+225delinsCGGCCCGG	ENSP00000370839.5:n.33+218_33+225delinsCGGCCCGG
ENST00000506357.5:c.19+218_19+225delinsCGGCCCGG
NM_000232.4:c.33+218_33+225delinsCGGCCCGG , LRG_204t1:c.33+218_33+225delinsCGGCCCGG	NP_000223.1:n.33+218_33+225delinsCGGCCCGG
XM_011534403.1:c.33+218_33+225delinsCGGCCCGG	XP_011532705.1:n.33+218_33+225delinsCGGCCCGG
NM_000232.5:c.33+218_33+225delinsCGGCCCGG MANE Select	NP_000223.1:n.33+218_33+225delinsCGGCCCGG