Canonical Allele Identifier: CA503389490

Gene: DSC2

Linked Data

• MyVariant Identifiers: chr18:g.28669126_28669127insCA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089164_31089165dup , CM000680.2:g.31089164_31089165dup	GRCh38
NC_000018.9:g.28669127_28669128dup , CM000680.1:g.28669127_28669128dup	GRCh37
NC_000018.8:g.26923125_26923126dup	NCBI36
NG_008208.2:g.18261_18262dup , LRG_400:g.18261_18262dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+274_201+275dup	ENSP00000507826.1:n.201+274_201+275dup
ENST00000251081.8:c.630+274_630+275dup	ENSP00000251081.6:n.630+274_630+275dup
ENST00000280904.11:c.630+274_630+275dup MANE Select	ENSP00000280904.6:n.630+274_630+275dup
ENST00000648081.1:c.201+274_201+275dup	ENSP00000497441.1:n.201+274_201+275dup
ENST00000251081.6:c.630+274_630+275dup	ENSP00000251081.6:n.630+274_630+275dup
ENST00000280904.10:c.630+274_630+275dup	ENSP00000280904.6:n.630+274_630+275dup
NM_004949.4:c.630+274_630+275dup	NP_004940.1:n.630+274_630+275dup
NM_024422.4:c.630+274_630+275dup	NP_077740.1:n.630+274_630+275dup
XM_005258206.3:c.201+274_201+275dup	XP_005258263.1:n.201+274_201+275dup
XM_005258206.4:c.201+274_201+275dup	XP_005258263.1:n.201+274_201+275dup
NM_004949.5:c.630+274_630+275dup	NP_004940.1:n.630+274_630+275dup
NM_024422.6:c.630+274_630+275dup MANE Select	NP_077740.1:n.630+274_630+275dup