Canonical Allele Identifier: CA8928347

Gene: DSG2

Linked Data

• ClinVar Variation Id: 1491787
• ClinVar RCV Id: RCV001988896
• dbSNP Id: rs779360113
• ExAC: 18:29121276 AGGTCAG / A
• gnomAD v2: 18-29121276-AGGTCAG-A
• gnomAD v4: 18-31541313-AGGTCAG-A
• MyVariant Identifiers: chr18:g.29121277_29121282del (hg19) ; chr18:g.31541314_31541319del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31541314_31541319del , CM000680.2:g.31541314_31541319del	GRCh38
NC_000018.9:g.29121277_29121282del , CM000680.1:g.29121277_29121282del	GRCh37
NC_000018.8:g.27375275_27375280del	NCBI36
NG_007072.3:g.48073_48078del , LRG_397:g.48073_48078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2001_2001+5del
ENST00000261590.12:c.2001_2001+5del
NM_001943.3:c.2001_2001+5del , LRG_397t1:c.2001_2001+5del
NM_001943.4:c.2001_2001+5del
XM_024451095.1:c.1467_1467+5del
NM_001943.5:c.2001_2001+5del