Canonical Allele Identifier: CA1457434074
Gene: SGCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038098_52038100delinsCGG , CM000666.2:g.52038098_52038100delinsCGG GRCh38
NC_000004.11:g.52904264_52904266delinsCGG , CM000666.1:g.52904264_52904266delinsCGG GRCh37
NC_000004.10:g.52599021_52599023delinsCGG NCBI36
NG_008891.1:g.5220_5222delinsCCG , LRG_204:g.5220_5222delinsCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.33+127_33+129delinsCCG MANE Select ENSP00000370839.6:n.33+127_33+129delinsCCG
ENST00000381431.9:c.33+127_33+129delinsCCG ENSP00000370839.5:n.33+127_33+129delinsCCG
ENST00000506357.5:c.19+127_19+129delinsCCG
NM_000232.4:c.33+127_33+129delinsCCG , LRG_204t1:c.33+127_33+129delinsCCG NP_000223.1:n.33+127_33+129delinsCCG
XM_011534403.1:c.33+127_33+129delinsCCG XP_011532705.1:n.33+127_33+129delinsCCG
NM_000232.5:c.33+127_33+129delinsCCG MANE Select NP_000223.1:n.33+127_33+129delinsCCG