Canonical Allele Identifier: CA2499217224
Gene: SGCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029853dup , CM000666.2:g.52029853dup GRCh38
NC_000004.11:g.52896019dup , CM000666.1:g.52896019dup GRCh37
NC_000004.10:g.52590776dup NCBI36
NG_008891.1:g.13468dup , LRG_204:g.13468dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.255dup MANE Select ENSP00000370839.6:p.Ile86TyrfsTer13
ENST00000381431.9:c.255dup ENSP00000370839.5:p.Ile86TyrfsTer13
ENST00000506357.5:c.338dup
ENST00000514133.1:c.332dup ENSP00000425818.1:n.332dup
NM_000232.4:c.255dup , LRG_204t1:c.255dup NP_000223.1:p.Ile86TyrfsTer13
XM_006714049.2:c.-43dup XP_006714112.1:n.-43dup
XM_011534403.1:c.45dup XP_011532705.1:p.Ile16TyrfsTer13
XM_011534404.1:c.-43dup XP_011532706.1:n.-43dup
NM_000232.5:c.255dup MANE Select NP_000223.1:p.Ile86TyrfsTer13