Canonical Allele Identifier: CA806165410
Gene: SGCD HGNC NCBI

Linked Data

dbSNP Id: rs1335455709
gnomAD v3: 5-156508792-AT-A
gnomAD v4: 5-156508792-AT-A
MyVariant Identifiers: chr5:g.155935803del (hg19) chr5:g.156508793del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156508794del , CM000667.2:g.156508794del GRCh38
NC_000005.9:g.155935804del , CM000667.1:g.155935804del GRCh37
NC_000005.8:g.155868382del NCBI36
NG_008693.2:g.643451del , LRG_205:g.643451del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.294+92del MANE Select ENSP00000338343.4:n.294+92del
ENST00000337851.8:c.294+92del ENSP00000338343.4:n.294+92del
ENST00000435422.7:c.291+92del ENSP00000403003.2:n.291+92del
ENST00000517913.5:c.294+92del ENSP00000429378.1:n.294+92del
ENST00000524347.2:c.*158+92del ENSP00000430794.1:n.*158+92del
NM_000337.5:c.294+92del , LRG_205t1:c.294+92del NP_000328.2:n.294+92del
NM_001128209.1:c.291+92del NP_001121681.1:n.291+92del
NM_172244.2:c.294+92del NP_758447.1:n.294+92del
XM_005265966.3:c.294+92del XP_005266023.1:n.294+92del
XM_005265967.1:c.294+92del XP_005266024.1:n.294+92del
XM_006714911.2:c.294+92del XP_006714974.1:n.294+92del
XM_011534621.1:c.291+92del XP_011532923.1:n.291+92del
XM_005265966.5:c.294+92del XP_005266023.1:n.294+92del
XM_005265967.2:c.294+92del XP_005266024.1:n.294+92del
XM_011534621.2:c.291+92del XP_011532923.1:n.291+92del
XM_017009723.2:c.294+92del XP_016865212.1:n.294+92del
XM_017009724.1:c.294+92del XP_016865213.1:n.294+92del
NM_001128209.2:c.291+92del NP_001121681.1:n.291+92del
NM_172244.3:c.294+92del NP_758447.1:n.294+92del
NM_000337.6:c.294+92del MANE Select NP_000328.2:n.294+92del
Search 100 bp 5'
Search 100 bp 3'