Canonical Allele Identifier: CA346919

Gene: SGCG

Linked Data

• ClinVar Variation Id: 208611
• ClinVar RCV Id: RCV000190623 ; RCV000713256
• dbSNP Id: rs797045106
• ExAC: 13:23778027 CAGTA / C
• gnomAD v2: 13-23778027-CAGTA-C
• gnomAD v3: 13-23203888-CAGTA-C
• gnomAD v4: 13-23203888-CAGTA-C
• MyVariant Identifiers: chr13:g.23778032_23778035del (hg19) ; chr13:g.23778028_23778031del (hg19) ; chr13:g.23778032_23778035delAGTA (hg19) ; chr13:g.23203893_23203896del (hg38) ; chr13:g.23203890_23203893del (hg38) ; chr13:g.23203889_23203892del (hg38)
• PubMed: PMID:11801399 ; PMID:19770540 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23203893_23203896del , CM000675.2:g.23203893_23203896del	GRCh38
NC_000013.10:g.23778032_23778035del , CM000675.1:g.23778032_23778035del	GRCh37
NC_000013.9:g.22676032_22676035del	NCBI36
NG_008759.1:g.27973_27976del , LRG_207:g.27973_27976del

Transcript Alleles

HGVS	Amino-acid change
ENST00000218867.4:c.195+4_195+7del
ENST00000218867.3:c.195+4_195+7del
NM_000231.2:c.195+4_195+7del , LRG_207t1:c.195+4_195+7del
XM_005266505.2:c.195+4_195+7del
XM_006719861.2:c.249+4_249+7del
XM_006719861.3:c.249+4_249+7del
XM_024449397.1:c.195+4_195+7del
NM_000231.3:c.195+4_195+7del
NM_001378244.1:c.249+4_249+7del
NM_001378245.1:c.195+4_195+7del
NM_001378246.1:c.195+4_195+7del