Canonical Allele Identifier: CA10617789
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 348863
ClinVar RCV Id: RCV000284857 RCV000376770
dbSNP Id: rs886059430
gnomAD v3: 4-52022308-G-GT
gnomAD v4: 4-52022308-G-GT
MyVariant Identifiers: chr4:g.52888475dupT (hg19) chr4:g.52888474_52888475insT (hg19) chr4:g.52022309dupT (hg38) chr4:g.52022308_52022309insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52022314dup , CM000666.2:g.52022314dup GRCh38
NC_000004.11:g.52888480dup , CM000666.1:g.52888480dup GRCh37
NC_000004.10:g.52583237dup NCBI36
NG_008891.1:g.21011dup , LRG_204:g.21011dup
NG_053164.1:g.3003dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.*1648dup MANE Select ENSP00000370839.6:n.*1648dup
ENST00000381431.9:c.*1648dup ENSP00000370839.5:n.*1648dup
NM_000232.4:c.*1648dup , LRG_204t1:c.*1648dup NP_000223.1:n.*1648dup
XM_006714049.2:c.*1648dup XP_006714112.1:n.*1648dup
XM_011534403.1:c.*1648dup XP_011532705.1:n.*1648dup
XM_011534404.1:c.*1648dup XP_011532706.1:n.*1648dup
NM_000232.5:c.*1648dup MANE Select NP_000223.1:n.*1648dup
Search 100 bp 5'
Search 100 bp 3'