Canonical Allele Identifier: CA2825002674

Gene: DSC2

Linked Data

• ClinVar Variation Id: 3067807
• ClinVar RCV Id: RCV003993496

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089474_31089485delinsTG , CM000680.2:g.31089474_31089485delinsTG	GRCh38
NC_000018.9:g.28669437_28669448delinsTG , CM000680.1:g.28669437_28669448delinsTG	GRCh37
NC_000018.8:g.26923435_26923446delinsTG	NCBI36
NG_008208.2:g.17941_17952delinsCA , LRG_400:g.17941_17952delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.155_166delinsCA	ENSP00000507826.1:p.Leu52SerfsTer4
ENST00000251081.8:c.584_595delinsCA	ENSP00000251081.6:p.Leu195SerfsTer4
ENST00000280904.11:c.584_595delinsCA MANE Select	ENSP00000280904.6:p.Leu195SerfsTer4
ENST00000648081.1:c.155_166delinsCA	ENSP00000497441.1:p.Leu52SerfsTer4
ENST00000251081.6:c.584_595delinsCA	ENSP00000251081.6:p.Leu195SerfsTer4
ENST00000280904.10:c.584_595delinsCA	ENSP00000280904.6:p.Leu195SerfsTer4
NM_004949.4:c.584_595delinsCA	NP_004940.1:p.Leu195SerfsTer4
NM_024422.4:c.584_595delinsCA	NP_077740.1:p.Leu195SerfsTer4
XM_005258206.3:c.155_166delinsCA	XP_005258263.1:p.Leu52SerfsTer4
XM_005258206.4:c.155_166delinsCA	XP_005258263.1:p.Leu52SerfsTer4
NM_004949.5:c.584_595delinsCA	NP_004940.1:p.Leu195SerfsTer4
NM_024422.6:c.584_595delinsCA MANE Select	NP_077740.1:p.Leu195SerfsTer4