Canonical Allele Identifier: CA1457429136
Gene: SGCB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028018_52028022delinsTAATG , CM000666.2:g.52028018_52028022delinsTAATG GRCh38
NC_000004.11:g.52894184_52894188delinsTAATG , CM000666.1:g.52894184_52894188delinsTAATG GRCh37
NC_000004.10:g.52588941_52588945delinsTAATG NCBI36
NG_008891.1:g.15298_15302delinsCATTA , LRG_204:g.15298_15302delinsCATTA

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.699_703delinsCATTA MANE Select ENSP00000370839.6:p.Phe233=
ENST00000381431.9:c.699_703delinsCATTA ENSP00000370839.5:p.Phe233=
NM_000232.4:c.699_703delinsCATTA , LRG_204t1:c.699_703delinsCATTA NP_000223.1:p.Phe233=
XM_006714049.2:c.402_406delinsCATTA XP_006714112.1:p.Phe134=
XM_011534403.1:c.489_493delinsCATTA XP_011532705.1:p.Phe163=
XM_011534404.1:c.402_406delinsCATTA XP_011532706.1:p.Phe134=
NM_000232.5:c.699_703delinsCATTA MANE Select NP_000223.1:p.Phe233=
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