Canonical Allele Identifier: CA2524549534
Gene: SGCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038114_52038128del , CM000666.2:g.52038114_52038128del GRCh38
NC_000004.11:g.52904280_52904294del , CM000666.1:g.52904280_52904294del GRCh37
NC_000004.10:g.52599037_52599051del NCBI36
NG_008891.1:g.5192_5206del , LRG_204:g.5192_5206del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.33+99_33+113del MANE Select ENSP00000370839.6:n.33+99_33+113del
ENST00000381431.9:c.33+99_33+113del ENSP00000370839.5:n.33+99_33+113del
ENST00000506357.5:c.19+99_19+113del
NM_000232.4:c.33+99_33+113del , LRG_204t1:c.33+99_33+113del NP_000223.1:n.33+99_33+113del
XM_011534403.1:c.33+99_33+113del XP_011532705.1:n.33+99_33+113del
NM_000232.5:c.33+99_33+113del MANE Select NP_000223.1:n.33+99_33+113del