Canonical Allele Identifier: CA551343875
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs963264476
gnomAD v2: 4-52904242-T-TCCCGC
gnomAD v3: 4-52038076-T-TCCCGC
gnomAD v4: 4-52038076-T-TCCCGC
MyVariant Identifiers: chr4:g.52904247_52904248insCCCGC (hg19) chr4:g.52904242_52904243insCCCGC (hg19) chr4:g.52038081_52038082insCCCGC (hg38) chr4:g.52038076_52038077insCCCGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038091_52038095dup , CM000666.2:g.52038091_52038095dup GRCh38
NC_000004.11:g.52904257_52904261dup , CM000666.1:g.52904257_52904261dup GRCh37
NC_000004.10:g.52599014_52599018dup NCBI36
NG_008891.1:g.5239_5243dup , LRG_204:g.5239_5243dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.33+146_33+150dup MANE Select ENSP00000370839.6:n.33+146_33+150dup
ENST00000381431.9:c.33+146_33+150dup ENSP00000370839.5:n.33+146_33+150dup
ENST00000506357.5:c.19+146_19+150dup
NM_000232.4:c.33+146_33+150dup , LRG_204t1:c.33+146_33+150dup NP_000223.1:n.33+146_33+150dup
XM_011534403.1:c.33+146_33+150dup XP_011532705.1:n.33+146_33+150dup
NM_000232.5:c.33+146_33+150dup MANE Select NP_000223.1:n.33+146_33+150dup
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