Canonical Allele Identifier: CA2739272767
Gene: SGCD HGNC NCBI

Linked Data

ClinVar Variation Id: 2915424
ClinVar RCV Id: RCV003620423

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156594923_156594924del , CM000667.2:g.156594923_156594924del GRCh38
NC_000005.9:g.156021933_156021934del , CM000667.1:g.156021933_156021934del GRCh37
NC_000005.8:g.155954511_155954512del NCBI36
NG_008693.2:g.729580_729581del , LRG_205:g.729580_729581del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.383-9_383-8del MANE Select ENSP00000338343.4:n.383-9_383-8del
ENST00000337851.8:c.383-9_383-8del ENSP00000338343.4:n.383-9_383-8del
ENST00000435422.7:c.380-9_380-8del ENSP00000403003.2:n.380-9_380-8del
ENST00000517913.5:c.383-9_383-8del ENSP00000429378.1:n.383-9_383-8del
NM_000337.5:c.383-9_383-8del , LRG_205t1:c.383-9_383-8del NP_000328.2:n.383-9_383-8del
NM_001128209.1:c.380-9_380-8del NP_001121681.1:n.380-9_380-8del
NM_172244.2:c.383-9_383-8del NP_758447.1:n.383-9_383-8del
XM_005265966.3:c.383-9_383-8del XP_005266023.1:n.383-9_383-8del
XM_005265967.1:c.383-9_383-8del XP_005266024.1:n.383-9_383-8del
XM_006714911.2:c.383-9_383-8del XP_006714974.1:n.383-9_383-8del
XM_011534621.1:c.380-9_380-8del XP_011532923.1:n.380-9_380-8del
XM_005265966.5:c.383-9_383-8del XP_005266023.1:n.383-9_383-8del
XM_005265967.2:c.383-9_383-8del XP_005266024.1:n.383-9_383-8del
XM_011534621.2:c.380-9_380-8del XP_011532923.1:n.380-9_380-8del
XM_017009723.2:c.383-9_383-8del XP_016865212.1:n.383-9_383-8del
XM_017009724.1:c.383-9_383-8del XP_016865213.1:n.383-9_383-8del
NM_001128209.2:c.380-9_380-8del NP_001121681.1:n.380-9_380-8del
NM_172244.3:c.383-9_383-8del NP_758447.1:n.383-9_383-8del
NM_000337.6:c.383-9_383-8del MANE Select NP_000328.2:n.383-9_383-8del