Canonical Allele Identifier: CA806117996

Gene: SGCD

Linked Data

• dbSNP Id: rs1450097481
• gnomAD v3: 5-156344788-CTG-C
• gnomAD v4: 5-156344788-CTG-C
• MyVariant Identifiers: chr5:g.155771799_155771800del (hg19) ; chr5:g.156344789_156344790del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156344790_156344791del , CM000667.2:g.156344790_156344791del	GRCh38
NC_000005.9:g.155771800_155771801del , CM000667.1:g.155771800_155771801del	GRCh37
NC_000005.8:g.155704378_155704379del	NCBI36
NG_008693.2:g.479447_479448del , LRG_205:g.479447_479448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.192+113_192+114del MANE Select	ENSP00000338343.4:n.192+113_192+114del
ENST00000337851.8:c.192+113_192+114del	ENSP00000338343.4:n.192+113_192+114del
ENST00000435422.7:c.189+113_189+114del	ENSP00000403003.2:n.189+113_189+114del
ENST00000517913.5:c.192+113_192+114del	ENSP00000429378.1:n.192+113_192+114del
ENST00000524347.2:c.192+113_192+114del	ENSP00000430794.1:n.192+113_192+114del
NM_000337.5:c.192+113_192+114del , LRG_205t1:c.192+113_192+114del	NP_000328.2:n.192+113_192+114del
NM_001128209.1:c.189+113_189+114del	NP_001121681.1:n.189+113_189+114del
NM_172244.2:c.192+113_192+114del	NP_758447.1:n.192+113_192+114del
XM_005265966.3:c.192+113_192+114del	XP_005266023.1:n.192+113_192+114del
XM_005265967.1:c.192+113_192+114del	XP_005266024.1:n.192+113_192+114del
XM_006714911.2:c.192+113_192+114del	XP_006714974.1:n.192+113_192+114del
XM_011534621.1:c.189+113_189+114del	XP_011532923.1:n.189+113_189+114del
XR_941123.1:n.254+2663_254+2664del
XM_005265966.5:c.192+113_192+114del	XP_005266023.1:n.192+113_192+114del
XM_005265967.2:c.192+113_192+114del	XP_005266024.1:n.192+113_192+114del
XM_011534621.2:c.189+113_189+114del	XP_011532923.1:n.189+113_189+114del
XM_017009723.2:c.192+113_192+114del	XP_016865212.1:n.192+113_192+114del
XM_017009724.1:c.192+113_192+114del	XP_016865213.1:n.192+113_192+114del
NM_001128209.2:c.189+113_189+114del	NP_001121681.1:n.189+113_189+114del
NM_172244.3:c.192+113_192+114del	NP_758447.1:n.192+113_192+114del
NM_000337.6:c.192+113_192+114del MANE Select	NP_000328.2:n.192+113_192+114del