Canonical Allele Identifier: CA629140448

Gene: DSC2

Linked Data

• ClinVar Variation Id: 1412874
• ClinVar RCV Id: RCV001925585
• dbSNP Id: rs1476161781
• gnomAD v2: 18-28650823-GAAGA-G
• gnomAD v3: 18-31070857-GAAGA-G
• gnomAD v4: 18-31070857-GAAGA-G
• MyVariant Identifiers: chr18:g.28650824_28650827del (hg19) ; chr18:g.31070858_31070861del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070864_31070867del , CM000680.2:g.31070864_31070867del	GRCh38
NC_000018.9:g.28650830_28650833del , CM000680.1:g.28650830_28650833del	GRCh37
NC_000018.8:g.26904828_26904831del	NCBI36
NG_008208.2:g.36565_36568del , LRG_400:g.36565_36568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1697-11_1697-8del	ENSP00000507826.1:n.1697-11_1697-8del
ENST00000251081.8:c.2126-11_2126-8del	ENSP00000251081.6:n.2126-11_2126-8del
ENST00000280904.11:c.2126-11_2126-8del MANE Select	ENSP00000280904.6:n.2126-11_2126-8del
ENST00000648081.1:c.1697-11_1697-8del	ENSP00000497441.1:n.1697-11_1697-8del
ENST00000251081.6:c.2126-11_2126-8del	ENSP00000251081.6:n.2126-11_2126-8del
ENST00000280904.10:c.2126-11_2126-8del	ENSP00000280904.6:n.2126-11_2126-8del
NM_004949.4:c.2126-11_2126-8del	NP_004940.1:n.2126-11_2126-8del
NM_024422.4:c.2126-11_2126-8del	NP_077740.1:n.2126-11_2126-8del
XM_005258206.3:c.1697-11_1697-8del	XP_005258263.1:n.1697-11_1697-8del
XM_005258206.4:c.1697-11_1697-8del	XP_005258263.1:n.1697-11_1697-8del
NM_004949.5:c.2126-11_2126-8del	NP_004940.1:n.2126-11_2126-8del
NM_024422.6:c.2126-11_2126-8del MANE Select	NP_077740.1:n.2126-11_2126-8del