Canonical Allele Identifier: CA2578464705
Gene: SGCD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156508660dup , CM000667.2:g.156508660dup GRCh38
NC_000005.9:g.155935670dup , CM000667.1:g.155935670dup GRCh37
NC_000005.8:g.155868248dup NCBI36
NG_008693.2:g.643317dup , LRG_205:g.643317dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.252dup MANE Select ENSP00000338343.4:p.Phe85IlefsTer16
ENST00000337851.8:c.252dup ENSP00000338343.4:p.Phe85IlefsTer16
ENST00000435422.7:c.249dup ENSP00000403003.2:p.Phe84IlefsTer16
ENST00000517913.5:c.252dup ENSP00000429378.1:p.Phe85IlefsTer16
ENST00000524347.2:c.*116dup ENSP00000430794.1:n.*116dup
NM_000337.5:c.252dup , LRG_205t1:c.252dup NP_000328.2:p.Phe85IlefsTer16
NM_001128209.1:c.249dup NP_001121681.1:p.Phe84IlefsTer16
NM_172244.2:c.252dup NP_758447.1:p.Phe85IlefsTer16
XM_005265966.3:c.252dup XP_005266023.1:p.Phe85IlefsTer16
XM_005265967.1:c.252dup XP_005266024.1:p.Phe85IlefsTer16
XM_006714911.2:c.252dup XP_006714974.1:p.Phe85IlefsTer16
XM_011534621.1:c.249dup XP_011532923.1:p.Phe84IlefsTer16
XM_005265966.5:c.252dup XP_005266023.1:p.Phe85IlefsTer16
XM_005265967.2:c.252dup XP_005266024.1:p.Phe85IlefsTer16
XM_011534621.2:c.249dup XP_011532923.1:p.Phe84IlefsTer16
XM_017009723.2:c.252dup XP_016865212.1:p.Phe85IlefsTer16
XM_017009724.1:c.252dup XP_016865213.1:p.Phe85IlefsTer16
NM_001128209.2:c.249dup NP_001121681.1:p.Phe84IlefsTer16
NM_172244.3:c.252dup NP_758447.1:p.Phe85IlefsTer16
NM_000337.6:c.252dup MANE Select NP_000328.2:p.Phe85IlefsTer16
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