Canonical Allele Identifier: CA2641389088

Gene: DSC2

Linked Data

• gnomAD v4: 18-31089492-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089493del , CM000680.2:g.31089493del	GRCh38
NC_000018.9:g.28669456del , CM000680.1:g.28669456del	GRCh37
NC_000018.8:g.26923454del	NCBI36
NG_008208.2:g.17933del , LRG_400:g.17933del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.147del	ENSP00000507826.1:p.Gly50GlufsTer9
ENST00000251081.8:c.576del	ENSP00000251081.6:p.Gly193GlufsTer9
ENST00000280904.11:c.576del MANE Select	ENSP00000280904.6:p.Gly193GlufsTer9
ENST00000648081.1:c.147del	ENSP00000497441.1:p.Gly50GlufsTer9
ENST00000251081.6:c.576del	ENSP00000251081.6:p.Gly193GlufsTer9
ENST00000280904.10:c.576del	ENSP00000280904.6:p.Gly193GlufsTer9
NM_004949.4:c.576del	NP_004940.1:p.Gly193GlufsTer9
NM_024422.4:c.576del	NP_077740.1:p.Gly193GlufsTer9
XM_005258206.3:c.147del	XP_005258263.1:p.Gly50GlufsTer9
XM_005258206.4:c.147del	XP_005258263.1:p.Gly50GlufsTer9
NM_004949.5:c.576del	NP_004940.1:p.Gly193GlufsTer9
NM_024422.6:c.576del MANE Select	NP_077740.1:p.Gly193GlufsTer9