Canonical Allele Identifier: CA2578464704
Gene: SGCD HGNC NCBI

Linked Data

gnomAD v4: 5-156508628-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156508633del , CM000667.2:g.156508633del GRCh38
NC_000005.9:g.155935643del , CM000667.1:g.155935643del GRCh37
NC_000005.8:g.155868221del NCBI36
NG_008693.2:g.643290del , LRG_205:g.643290del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.225del MANE Select ENSP00000338343.4:p.Gly76ValfsTer2
ENST00000337851.8:c.225del ENSP00000338343.4:p.Gly76ValfsTer2
ENST00000435422.7:c.222del ENSP00000403003.2:p.Gly75ValfsTer2
ENST00000517913.5:c.225del ENSP00000429378.1:p.Gly76ValfsTer2
ENST00000524347.2:c.*89del ENSP00000430794.1:n.*89del
NM_000337.5:c.225del , LRG_205t1:c.225del NP_000328.2:p.Gly76ValfsTer2
NM_001128209.1:c.222del NP_001121681.1:p.Gly75ValfsTer2
NM_172244.2:c.225del NP_758447.1:p.Gly76ValfsTer2
XM_005265966.3:c.225del XP_005266023.1:p.Gly76ValfsTer2
XM_005265967.1:c.225del XP_005266024.1:p.Gly76ValfsTer2
XM_006714911.2:c.225del XP_006714974.1:p.Gly76ValfsTer2
XM_011534621.1:c.222del XP_011532923.1:p.Gly75ValfsTer2
XM_005265966.5:c.225del XP_005266023.1:p.Gly76ValfsTer2
XM_005265967.2:c.225del XP_005266024.1:p.Gly76ValfsTer2
XM_011534621.2:c.222del XP_011532923.1:p.Gly75ValfsTer2
XM_017009723.2:c.225del XP_016865212.1:p.Gly76ValfsTer2
XM_017009724.1:c.225del XP_016865213.1:p.Gly76ValfsTer2
NM_001128209.2:c.222del NP_001121681.1:p.Gly75ValfsTer2
NM_172244.3:c.225del NP_758447.1:p.Gly76ValfsTer2
NM_000337.6:c.225del MANE Select NP_000328.2:p.Gly76ValfsTer2
Search 100 bp 5'
Search 100 bp 3'