Canonical Allele Identifier: CA2670614627
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038249_52038250insAG , CM000666.2:g.52038249_52038250insAG GRCh38
NC_000004.11:g.52904415_52904416insAG , CM000666.1:g.52904415_52904416insAG GRCh37
NC_000004.10:g.52599172_52599173insAG NCBI36
NG_008891.1:g.5071_5072insTC , LRG_204:g.5071_5072insTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.11_12insTC MANE Select ENSP00000370839.6:p.Ala5ArgfsTer15
ENST00000381431.9:c.11_12insTC ENSP00000370839.5:p.Ala5ArgfsTer15
NM_000232.4:c.11_12insTC , LRG_204t1:c.11_12insTC NP_000223.1:p.Ala5ArgfsTer15
XM_011534403.1:c.11_12insTC XP_011532705.1:p.Ala5ArgfsTer9
NM_000232.5:c.11_12insTC MANE Select NP_000223.1:p.Ala5ArgfsTer15