Canonical Allele Identifier: CA10623918

Gene: SGCD

Linked Data

• ClinVar Variation Id: 352425
• ClinVar RCV Id: RCV000298864 ; RCV000335158 ; RCV000391219 ; RCV002487541 ; RCV003233606 ; RCV003233605
• dbSNP Id: rs57240389
• gnomAD v2: 5-156193045-T-TA
• gnomAD v3: 5-156766034-T-TA
• gnomAD v4: 5-156766034-T-TA
• COSMIC: COSN20102115
• MyVariant Identifiers: chr5:g.156193061dupA (hg19) ; chr5:g.156193047_156193048insA (hg19) ; chr5:g.156193045_156193046insA (hg19) ; chr5:g.156766050dupA (hg38) ; chr5:g.156766036_156766037insA (hg38) ; chr5:g.156766034_156766035insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156766050dup , CM000667.2:g.156766050dup	GRCh38
NC_000005.9:g.156193061dup , CM000667.1:g.156193061dup	GRCh37
NC_000005.8:g.156125639dup	NCBI36
NG_008693.2:g.900708dup , LRG_205:g.900708dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.*6660dup MANE Select	ENSP00000338343.4:n.*6660dup
ENST00000435422.7:c.*6660dup	ENSP00000403003.2:n.*6660dup
NM_000337.5:c.*6660dup , LRG_205t1:c.*6660dup	NP_000328.2:n.*6660dup
NM_001128209.1:c.*6660dup	NP_001121681.1:n.*6660dup
XM_005265966.3:c.*6660dup	XP_005266023.1:n.*6660dup
XM_006714911.2:c.*6660dup	XP_006714974.1:n.*6660dup
XM_011534621.1:c.*6660dup	XP_011532923.1:n.*6660dup
NM_001128209.2:c.*6660dup	NP_001121681.1:n.*6660dup
NM_000337.6:c.*6660dup MANE Select	NP_000328.2:n.*6660dup