Canonical Allele Identifier: CA658657385
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 466601
ClinVar RCV Id: RCV000538793 RCV000596558 RCV001778998
dbSNP Id: rs1553940963
gnomAD v3: 4-52038237-G-GCCGCCGCCGCCGCTGCCGCCATCTTCCCGCGC
gnomAD v4: 4-52038237-G-GCCGCCGCCGCCGCTGCCGCCATCTTCCCGCGC
MyVariant Identifiers: chr4:g.52904404_52904435dup (hg19) chr4:g.52038238_52038269dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038250_52038281dup , CM000666.2:g.52038250_52038281dup GRCh38
NC_000004.11:g.52904416_52904447dup , CM000666.1:g.52904416_52904447dup GRCh37
NC_000004.10:g.52599173_52599204dup NCBI36
NG_008891.1:g.5051_5082dup , LRG_204:g.5051_5082dup

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.-10_22dup MANE Select ENSP00000370839.6:p.Ala8GlyfsTer22
ENST00000381431.9:c.-10_22dup ENSP00000370839.5:p.Ala8GlyfsTer22
NM_000232.4:c.-10_22dup , LRG_204t1:c.-10_22dup NP_000223.1:p.Ala8GlyfsTer22
XM_011534403.1:c.-10_22dup XP_011532705.1:p.Ala8GlyfsTer16
NM_000232.5:c.-10_22dup MANE Select NP_000223.1:p.Ala8GlyfsTer22
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