Canonical Allele Identifier: CA1593661323
Gene: SGCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156344868_156344869delinsCG , CM000667.2:g.156344868_156344869delinsCG GRCh38
NC_000005.9:g.155771878_155771879delinsCG , CM000667.1:g.155771878_155771879delinsCG GRCh37
NC_000005.8:g.155704456_155704457delinsCG NCBI36
NG_008693.2:g.479525_479526delinsCG , LRG_205:g.479525_479526delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.192+191_192+192delinsCG MANE Select ENSP00000338343.4:n.192+191_192+192delinsCG
ENST00000337851.8:c.192+191_192+192delinsCG ENSP00000338343.4:n.192+191_192+192delinsCG
ENST00000435422.7:c.189+191_189+192delinsCG ENSP00000403003.2:n.189+191_189+192delinsCG
ENST00000517913.5:c.192+191_192+192delinsCG ENSP00000429378.1:n.192+191_192+192delinsCG
ENST00000524347.2:c.192+191_192+192delinsCG ENSP00000430794.1:n.192+191_192+192delinsCG
NM_000337.5:c.192+191_192+192delinsCG , LRG_205t1:c.192+191_192+192delinsCG NP_000328.2:n.192+191_192+192delinsCG
NM_001128209.1:c.189+191_189+192delinsCG NP_001121681.1:n.189+191_189+192delinsCG
NM_172244.2:c.192+191_192+192delinsCG NP_758447.1:n.192+191_192+192delinsCG
XM_005265966.3:c.192+191_192+192delinsCG XP_005266023.1:n.192+191_192+192delinsCG
XM_005265967.1:c.192+191_192+192delinsCG XP_005266024.1:n.192+191_192+192delinsCG
XM_006714911.2:c.192+191_192+192delinsCG XP_006714974.1:n.192+191_192+192delinsCG
XM_011534621.1:c.189+191_189+192delinsCG XP_011532923.1:n.189+191_189+192delinsCG
XR_941123.1:n.254+2584_254+2585delinsCG
XM_005265966.5:c.192+191_192+192delinsCG XP_005266023.1:n.192+191_192+192delinsCG
XM_005265967.2:c.192+191_192+192delinsCG XP_005266024.1:n.192+191_192+192delinsCG
XM_011534621.2:c.189+191_189+192delinsCG XP_011532923.1:n.189+191_189+192delinsCG
XM_017009723.2:c.192+191_192+192delinsCG XP_016865212.1:n.192+191_192+192delinsCG
XM_017009724.1:c.192+191_192+192delinsCG XP_016865213.1:n.192+191_192+192delinsCG
NM_001128209.2:c.189+191_189+192delinsCG NP_001121681.1:n.189+191_189+192delinsCG
NM_172244.3:c.192+191_192+192delinsCG NP_758447.1:n.192+191_192+192delinsCG
NM_000337.6:c.192+191_192+192delinsCG MANE Select NP_000328.2:n.192+191_192+192delinsCG