Canonical Allele Identifier: CA2670614312

Gene: SGCB

Linked Data

• gnomAD v4: 4-52038089-CGCCCCGATCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52038090_52038100del , CM000666.2:g.52038090_52038100del	GRCh38
NC_000004.11:g.52904256_52904266del , CM000666.1:g.52904256_52904266del	GRCh37
NC_000004.10:g.52599013_52599023del	NCBI36
NG_008891.1:g.5220_5230del , LRG_204:g.5220_5230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.33+127_33+137del MANE Select	ENSP00000370839.6:n.33+127_33+137del
ENST00000381431.9:c.33+127_33+137del	ENSP00000370839.5:n.33+127_33+137del
ENST00000506357.5:c.19+127_19+137del
NM_000232.4:c.33+127_33+137del , LRG_204t1:c.33+127_33+137del	NP_000223.1:n.33+127_33+137del
XM_011534403.1:c.33+127_33+137del	XP_011532705.1:n.33+127_33+137del
NM_000232.5:c.33+127_33+137del MANE Select	NP_000223.1:n.33+127_33+137del