Canonical Allele Identifier: CA1457429155
Gene: SGCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028063_52028065delinsCTT , CM000666.2:g.52028063_52028065delinsCTT GRCh38
NC_000004.11:g.52894229_52894231delinsCTT , CM000666.1:g.52894229_52894231delinsCTT GRCh37
NC_000004.10:g.52588986_52588988delinsCTT NCBI36
NG_008891.1:g.15255_15257delinsAAG , LRG_204:g.15255_15257delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.656_658delinsAAG MANE Select ENSP00000370839.6:p.Lys219=
ENST00000381431.9:c.656_658delinsAAG ENSP00000370839.5:p.Lys219=
NM_000232.4:c.656_658delinsAAG , LRG_204t1:c.656_658delinsAAG NP_000223.1:p.Lys219=
XM_006714049.2:c.359_361delinsAAG XP_006714112.1:p.Lys120=
XM_011534403.1:c.446_448delinsAAG XP_011532705.1:p.Lys149=
XM_011534404.1:c.359_361delinsAAG XP_011532706.1:p.Lys120=
NM_000232.5:c.656_658delinsAAG MANE Select NP_000223.1:p.Lys219=