Canonical Allele Identifier: CA1593661303
Gene: SGCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156344814_156344819delinsGCATTT , CM000667.2:g.156344814_156344819delinsGCATTT GRCh38
NC_000005.9:g.155771824_155771829delinsGCATTT , CM000667.1:g.155771824_155771829delinsGCATTT GRCh37
NC_000005.8:g.155704402_155704407delinsGCATTT NCBI36
NG_008693.2:g.479471_479476delinsGCATTT , LRG_205:g.479471_479476delinsGCATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.192+137_192+142delinsGCATTT MANE Select ENSP00000338343.4:n.192+137_192+142delinsGCATTT
ENST00000337851.8:c.192+137_192+142delinsGCATTT ENSP00000338343.4:n.192+137_192+142delinsGCATTT
ENST00000435422.7:c.189+137_189+142delinsGCATTT ENSP00000403003.2:n.189+137_189+142delinsGCATTT
ENST00000517913.5:c.192+137_192+142delinsGCATTT ENSP00000429378.1:n.192+137_192+142delinsGCATTT
ENST00000524347.2:c.192+137_192+142delinsGCATTT ENSP00000430794.1:n.192+137_192+142delinsGCATTT
NM_000337.5:c.192+137_192+142delinsGCATTT , LRG_205t1:c.192+137_192+142delinsGCATTT NP_000328.2:n.192+137_192+142delinsGCATTT
NM_001128209.1:c.189+137_189+142delinsGCATTT NP_001121681.1:n.189+137_189+142delinsGCATTT
NM_172244.2:c.192+137_192+142delinsGCATTT NP_758447.1:n.192+137_192+142delinsGCATTT
XM_005265966.3:c.192+137_192+142delinsGCATTT XP_005266023.1:n.192+137_192+142delinsGCATTT
XM_005265967.1:c.192+137_192+142delinsGCATTT XP_005266024.1:n.192+137_192+142delinsGCATTT
XM_006714911.2:c.192+137_192+142delinsGCATTT XP_006714974.1:n.192+137_192+142delinsGCATTT
XM_011534621.1:c.189+137_189+142delinsGCATTT XP_011532923.1:n.189+137_189+142delinsGCATTT
XR_941123.1:n.254+2634_254+2639delinsAAATGC
XM_005265966.5:c.192+137_192+142delinsGCATTT XP_005266023.1:n.192+137_192+142delinsGCATTT
XM_005265967.2:c.192+137_192+142delinsGCATTT XP_005266024.1:n.192+137_192+142delinsGCATTT
XM_011534621.2:c.189+137_189+142delinsGCATTT XP_011532923.1:n.189+137_189+142delinsGCATTT
XM_017009723.2:c.192+137_192+142delinsGCATTT XP_016865212.1:n.192+137_192+142delinsGCATTT
XM_017009724.1:c.192+137_192+142delinsGCATTT XP_016865213.1:n.192+137_192+142delinsGCATTT
NM_001128209.2:c.189+137_189+142delinsGCATTT NP_001121681.1:n.189+137_189+142delinsGCATTT
NM_172244.3:c.192+137_192+142delinsGCATTT NP_758447.1:n.192+137_192+142delinsGCATTT
NM_000337.6:c.192+137_192+142delinsGCATTT MANE Select NP_000328.2:n.192+137_192+142delinsGCATTT