Canonical Allele Identifier: CA658796665
Community Standard Title: NM_000337.6(SGCD):c.-44+11_-44+13del
Gene: SGCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156327243_156327245del , CM000667.2:g.156327243_156327245del GRCh38
NC_000005.9:g.155754253_155754255del , CM000667.1:g.155754253_155754255del GRCh37
NC_000005.8:g.155686831_155686833del NCBI36
NG_008693.2:g.461900_461902del , LRG_205:g.461900_461902del

Transcript Alleles

HGVS Amino-acid Change
NM_000337.6:c.-44+11_-44+13del MANE Select NP_000328.2:n.-44+11_-44+13del
ENST00000337851.9:c.-44+11_-44+13del MANE Select ENSP00000338343.4:n.-44+11_-44+13del
NM_000337.5:c.-44+11_-44+13del , LRG_205t1:c.-44+11_-44+13del NP_000328.2:n.-44+11_-44+13del
NM_001128209.1:c.-1+11_-1+13del NP_001121681.1:n.-1+11_-1+13del
NM_001128209.2:c.-1+11_-1+13del NP_001121681.1:n.-1+11_-1+13del
NM_172244.2:c.-44+11_-44+13del NP_758447.1:n.-44+11_-44+13del
NM_172244.3:c.-44+11_-44+13del NP_758447.1:n.-44+11_-44+13del
ENST00000337851.8:c.-44+11_-44+13del ENSP00000338343.4:n.-44+11_-44+13del
ENST00000435422.7:c.-1+11_-1+13del ENSP00000403003.2:n.-1+11_-1+13del
ENST00000517913.5:c.-43-2291_-43-2289del ENSP00000429378.1:n.-43-2291_-43-2289del
ENST00000524347.2:c.-44+11_-44+13del ENSP00000430794.1:n.-44+11_-44+13del
XM_005265967.1:c.-44+11_-44+13del XP_005266024.1:n.-44+11_-44+13del
XM_005265967.2:c.-44+11_-44+13del XP_005266024.1:n.-44+11_-44+13del
XM_006714911.2:c.-43-2291_-43-2289del XP_006714974.1:n.-43-2291_-43-2289del
XM_011534621.1:c.1-17246_1-17244del XP_011532923.1:n.1-17246_1-17244del
XM_011534621.2:c.1-17246_1-17244del XP_011532923.1:n.1-17246_1-17244del
XM_017009723.2:c.-43-2291_-43-2289del XP_016865212.1:n.-43-2291_-43-2289del
XM_017009724.1:c.-43-2291_-43-2289del XP_016865213.1:n.-43-2291_-43-2289del
XR_941123.1:n.254+20209_254+20211del