Canonical Allele Identifier: CA3530587

Gene: SGCD

Linked Data

• dbSNP Id: rs749060001
• ExAC: 5:156021915 ATC / A
• gnomAD v2: 5-156021915-ATC-A
• gnomAD v4: 5-156594905-ATC-A
• MyVariant Identifiers: chr5:g.156021916_156021917del (hg19) ; chr5:g.156594906_156594907del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594911_156594912del , CM000667.2:g.156594911_156594912del	GRCh38
NC_000005.9:g.156021921_156021922del , CM000667.1:g.156021921_156021922del	GRCh37
NC_000005.8:g.155954499_155954500del	NCBI36
NG_008693.2:g.729568_729569del , LRG_205:g.729568_729569del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337851.9:c.383-21_383-20del MANE Select	ENSP00000338343.4:n.383-21_383-20del
ENST00000337851.8:c.383-21_383-20del	ENSP00000338343.4:n.383-21_383-20del
ENST00000435422.7:c.380-21_380-20del	ENSP00000403003.2:n.380-21_380-20del
ENST00000517913.5:c.383-21_383-20del	ENSP00000429378.1:n.383-21_383-20del
NM_000337.5:c.383-21_383-20del , LRG_205t1:c.383-21_383-20del	NP_000328.2:n.383-21_383-20del
NM_001128209.1:c.380-21_380-20del	NP_001121681.1:n.380-21_380-20del
NM_172244.2:c.383-21_383-20del	NP_758447.1:n.383-21_383-20del
XM_005265966.3:c.383-21_383-20del	XP_005266023.1:n.383-21_383-20del
XM_005265967.1:c.383-21_383-20del	XP_005266024.1:n.383-21_383-20del
XM_006714911.2:c.383-21_383-20del	XP_006714974.1:n.383-21_383-20del
XM_011534621.1:c.380-21_380-20del	XP_011532923.1:n.380-21_380-20del
XM_005265966.5:c.383-21_383-20del	XP_005266023.1:n.383-21_383-20del
XM_005265967.2:c.383-21_383-20del	XP_005266024.1:n.383-21_383-20del
XM_011534621.2:c.380-21_380-20del	XP_011532923.1:n.380-21_380-20del
XM_017009723.2:c.383-21_383-20del	XP_016865212.1:n.383-21_383-20del
XM_017009724.1:c.383-21_383-20del	XP_016865213.1:n.383-21_383-20del
NM_001128209.2:c.380-21_380-20del	NP_001121681.1:n.380-21_380-20del
NM_172244.3:c.383-21_383-20del	NP_758447.1:n.383-21_383-20del
NM_000337.6:c.383-21_383-20del MANE Select	NP_000328.2:n.383-21_383-20del