Canonical Allele Identifier: CA796086297
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 841552
ClinVar RCV Id: RCV001043800
dbSNP Id: rs1207685911
gnomAD v3: 4-52038251-T-TGCCGCCATCTTCCCGCGCCC
gnomAD v4: 4-52038251-T-TGCCGCCATCTTCCCGCGCCC
MyVariant Identifiers: chr4:g.52904417_52904418insGCCGCCATCTTCCCGCGCCC (hg19) chr4:g.52038251_52038252insGCCGCCATCTTCCCGCGCCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038258_52038277dup , CM000666.2:g.52038258_52038277dup GRCh38
NC_000004.11:g.52904424_52904443dup , CM000666.1:g.52904424_52904443dup GRCh37
NC_000004.10:g.52599181_52599200dup NCBI36
NG_008891.1:g.5049_5068dup , LRG_204:g.5049_5068dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.-12_8dup MANE Select ENSP00000370839.6:p.Ala4GlyfsTer22
ENST00000381431.9:c.-12_8dup ENSP00000370839.5:p.Ala4GlyfsTer22
NM_000232.4:c.-12_8dup , LRG_204t1:c.-12_8dup NP_000223.1:p.Ala4GlyfsTer22
XM_011534403.1:c.-12_8dup XP_011532705.1:p.Ala4GlyfsTer16
NM_000232.5:c.-12_8dup MANE Select NP_000223.1:p.Ala4GlyfsTer22
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