Canonical Allele Identifier: CA2695199374
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2678685
ClinVar RCV Id: RCV003472676
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027988dup , CM000666.2:g.52027988dup GRCh38
NC_000004.11:g.52894154dup , CM000666.1:g.52894154dup GRCh37
NC_000004.10:g.52588911dup NCBI36
NG_008891.1:g.15333dup , LRG_204:g.15333dup

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.734dup MANE Select ENSP00000370839.6:p.Asn246Ter
ENST00000381431.9:c.734dup ENSP00000370839.5:p.Asn246Ter
NM_000232.4:c.734dup , LRG_204t1:c.734dup NP_000223.1:p.Asn246Ter
XM_006714049.2:c.437dup XP_006714112.1:p.Asn147Ter
XM_011534403.1:c.524dup XP_011532705.1:p.Asn176Ter
XM_011534404.1:c.437dup XP_011532706.1:p.Asn147Ter
NM_000232.5:c.734dup MANE Select NP_000223.1:p.Asn246Ter
Search 100 bp 5'
Search 100 bp 3'