Canonical Allele Identifier: CA2670614268

Gene: SGCB

Linked Data

• gnomAD v4: 4-52038076-T-TGCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52038076_52038077insGCCCCCCCCC , CM000666.2:g.52038076_52038077insGCCCCCCCCC	GRCh38
NC_000004.11:g.52904242_52904243insGCCCCCCCCC , CM000666.1:g.52904242_52904243insGCCCCCCCCC	GRCh37
NC_000004.10:g.52598999_52599000insGCCCCCCCCC	NCBI36
NG_008891.1:g.5243_5244insGGGGGGGGGC , LRG_204:g.5243_5244insGGGGGGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.33+150_33+151insGGGGGGGGGC MANE Select	ENSP00000370839.6:n.33+150_33+151insGGGGGGGGGC
ENST00000381431.9:c.33+150_33+151insGGGGGGGGGC	ENSP00000370839.5:n.33+150_33+151insGGGGGGGGGC
ENST00000506357.5:c.19+150_19+151insGGGGGGGGGC
NM_000232.4:c.33+150_33+151insGGGGGGGGGC , LRG_204t1:c.33+150_33+151insGGGGGGGGGC	NP_000223.1:n.33+150_33+151insGGGGGGGGGC
XM_011534403.1:c.33+150_33+151insGGGGGGGGGC	XP_011532705.1:n.33+150_33+151insGGGGGGGGGC
NM_000232.5:c.33+150_33+151insGGGGGGGGGC MANE Select	NP_000223.1:n.33+150_33+151insGGGGGGGGGC