Canonical Allele Identifier: CA806118064

Gene: SGCD

Linked Data

• dbSNP Id: rs1216958475
• gnomAD v3: 5-156344900-CCTCCTTTAGAAT-C
• gnomAD v4: 5-156344900-CCTCCTTTAGAAT-C
• MyVariant Identifiers: chr5:g.155771911_155771922del (hg19) ; chr5:g.156344901_156344912del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156344906_156344917del , CM000667.2:g.156344906_156344917del	GRCh38
NC_000005.9:g.155771916_155771927del , CM000667.1:g.155771916_155771927del	GRCh37
NC_000005.8:g.155704494_155704505del	NCBI36
NG_008693.2:g.479563_479574del , LRG_205:g.479563_479574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.192+229_192+240del MANE Select	ENSP00000338343.4:n.192+229_192+240del
ENST00000337851.8:c.192+229_192+240del	ENSP00000338343.4:n.192+229_192+240del
ENST00000435422.7:c.189+229_189+240del	ENSP00000403003.2:n.189+229_189+240del
ENST00000517913.5:c.192+229_192+240del	ENSP00000429378.1:n.192+229_192+240del
ENST00000524347.2:c.192+229_192+240del	ENSP00000430794.1:n.192+229_192+240del
NM_000337.5:c.192+229_192+240del , LRG_205t1:c.192+229_192+240del	NP_000328.2:n.192+229_192+240del
NM_001128209.1:c.189+229_189+240del	NP_001121681.1:n.189+229_189+240del
NM_172244.2:c.192+229_192+240del	NP_758447.1:n.192+229_192+240del
XM_005265966.3:c.192+229_192+240del	XP_005266023.1:n.192+229_192+240del
XM_005265967.1:c.192+229_192+240del	XP_005266024.1:n.192+229_192+240del
XM_006714911.2:c.192+229_192+240del	XP_006714974.1:n.192+229_192+240del
XM_011534621.1:c.189+229_189+240del	XP_011532923.1:n.189+229_189+240del
XR_941123.1:n.254+2541_254+2552del
XM_005265966.5:c.192+229_192+240del	XP_005266023.1:n.192+229_192+240del
XM_005265967.2:c.192+229_192+240del	XP_005266024.1:n.192+229_192+240del
XM_011534621.2:c.189+229_189+240del	XP_011532923.1:n.189+229_189+240del
XM_017009723.2:c.192+229_192+240del	XP_016865212.1:n.192+229_192+240del
XM_017009724.1:c.192+229_192+240del	XP_016865213.1:n.192+229_192+240del
NM_001128209.2:c.189+229_189+240del	NP_001121681.1:n.189+229_189+240del
NM_172244.3:c.192+229_192+240del	NP_758447.1:n.192+229_192+240del
NM_000337.6:c.192+229_192+240del MANE Select	NP_000328.2:n.192+229_192+240del