Canonical Allele Identifier: CA2695199380
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2678680
ClinVar RCV Id: RCV003463545
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029676dup , CM000666.2:g.52029676dup GRCh38
NC_000004.11:g.52895842dup , CM000666.1:g.52895842dup GRCh37
NC_000004.10:g.52590599dup NCBI36
NG_008891.1:g.13644dup , LRG_204:g.13644dup

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.429+2dup MANE Select ENSP00000370839.6:n.429+2dup
ENST00000381431.9:c.429+2dup ENSP00000370839.5:n.429+2dup
ENST00000506357.5:c.512+2dup
ENST00000514133.1:c.506+2dup ENSP00000425818.1:n.506+2dup
NM_000232.4:c.429+2dup , LRG_204t1:c.429+2dup NP_000223.1:n.429+2dup
XM_006714049.2:c.132+2dup XP_006714112.1:n.132+2dup
XM_011534403.1:c.219+2dup XP_011532705.1:n.219+2dup
XM_011534404.1:c.132+2dup XP_011532706.1:n.132+2dup
NM_000232.5:c.429+2dup MANE Select NP_000223.1:n.429+2dup
Search 100 bp 5'
Search 100 bp 3'