Canonical Allele Identifier: CA2578086693
Gene: SGCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033382dup , CM000666.2:g.52033382dup GRCh38
NC_000004.11:g.52899548dup , CM000666.1:g.52899548dup GRCh37
NC_000004.10:g.52594305dup NCBI36
NG_008891.1:g.9938dup , LRG_204:g.9938dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.243+49dup MANE Select ENSP00000370839.6:n.243+49dup
ENST00000381431.9:c.243+49dup ENSP00000370839.5:n.243+49dup
ENST00000506357.5:c.229+49dup
ENST00000514133.1:c.210+49dup ENSP00000425818.1:n.210+49dup
NM_000232.4:c.243+49dup , LRG_204t1:c.243+49dup NP_000223.1:n.243+49dup
XM_006714049.2:c.-165+49dup XP_006714112.1:n.-165+49dup
XM_011534403.1:c.34-3519dup XP_011532705.1:n.34-3519dup
XM_011534404.1:c.-142+49dup XP_011532706.1:n.-142+49dup
NM_000232.5:c.243+49dup MANE Select NP_000223.1:n.243+49dup