Canonical Allele Identifier: CA2670614622
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2678689
ClinVar RCV Id: RCV003472680
gnomAD v4: 4-52038243-G-GCCGCCGCTGCCGCCATCTTCCCGCGC
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038251_52038276dup , CM000666.2:g.52038251_52038276dup GRCh38
NC_000004.11:g.52904417_52904442dup , CM000666.1:g.52904417_52904442dup GRCh37
NC_000004.10:g.52599174_52599199dup NCBI36
NG_008891.1:g.5051_5076dup , LRG_204:g.5051_5076dup

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.-10_16dup MANE Select ENSP00000370839.6:p.Ala6GlyfsTer22
ENST00000381431.9:c.-10_16dup ENSP00000370839.5:p.Ala6GlyfsTer22
NM_000232.4:c.-10_16dup , LRG_204t1:c.-10_16dup NP_000223.1:p.Ala6GlyfsTer22
XM_011534403.1:c.-10_16dup XP_011532705.1:p.Ala6GlyfsTer16
NM_000232.5:c.-10_16dup MANE Select NP_000223.1:p.Ala6GlyfsTer22
Search 100 bp 5'
Search 100 bp 3'