Canonical Allele Identifier: CA96791489
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs992964613
gnomAD v3: 4-52038139-A-AC
gnomAD v4: 4-52038139-A-AC
MyVariant Identifiers: chr4:g.52904305_52904306insC (hg19) chr4:g.52038139_52038140insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038144dup , CM000666.2:g.52038144dup GRCh38
NC_000004.11:g.52904310dup , CM000666.1:g.52904310dup GRCh37
NC_000004.10:g.52599067dup NCBI36
NG_008891.1:g.5180dup , LRG_204:g.5180dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.33+87dup MANE Select ENSP00000370839.6:n.33+87dup
ENST00000381431.9:c.33+87dup ENSP00000370839.5:n.33+87dup
ENST00000506357.5:c.19+87dup
NM_000232.4:c.33+87dup , LRG_204t1:c.33+87dup NP_000223.1:n.33+87dup
XM_011534403.1:c.33+87dup XP_011532705.1:n.33+87dup
NM_000232.5:c.33+87dup MANE Select NP_000223.1:n.33+87dup
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