Canonical Allele Identifier: CA2573137891
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 1574323
ClinVar RCV Id: RCV002080602
dbSNP Id: rs2109370138

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028121_52028132del , CM000666.2:g.52028121_52028132del GRCh38
NC_000004.11:g.52894287_52894298del , CM000666.1:g.52894287_52894298del GRCh37
NC_000004.10:g.52589044_52589055del NCBI36
NG_008891.1:g.15191_15202del , LRG_204:g.15191_15202del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.622-30_622-19del MANE Select ENSP00000370839.6:n.622-30_622-19del
ENST00000381431.9:c.622-30_622-19del ENSP00000370839.5:n.622-30_622-19del
NM_000232.4:c.622-30_622-19del , LRG_204t1:c.622-30_622-19del NP_000223.1:n.622-30_622-19del
XM_006714049.2:c.325-30_325-19del XP_006714112.1:n.325-30_325-19del
XM_011534403.1:c.412-30_412-19del XP_011532705.1:n.412-30_412-19del
XM_011534404.1:c.325-30_325-19del XP_011532706.1:n.325-30_325-19del
NM_000232.5:c.622-30_622-19del MANE Select NP_000223.1:n.622-30_622-19del