Canonical Allele Identifier: CA2591641493

Gene: DSC2

Linked Data

• gnomAD v3: 18-31089159-T-TCC
• gnomAD v4: 18-31089159-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089159_31089160insCC , CM000680.2:g.31089159_31089160insCC	GRCh38
NC_000018.9:g.28669122_28669123insCC , CM000680.1:g.28669122_28669123insCC	GRCh37
NC_000018.8:g.26923120_26923121insCC	NCBI36
NG_008208.2:g.18266_18267insGG , LRG_400:g.18266_18267insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+279_201+280insGG	ENSP00000507826.1:n.201+279_201+280insGG
ENST00000251081.8:c.630+279_630+280insGG	ENSP00000251081.6:n.630+279_630+280insGG
ENST00000280904.11:c.630+279_630+280insGG MANE Select	ENSP00000280904.6:n.630+279_630+280insGG
ENST00000648081.1:c.201+279_201+280insGG	ENSP00000497441.1:n.201+279_201+280insGG
ENST00000251081.6:c.630+279_630+280insGG	ENSP00000251081.6:n.630+279_630+280insGG
ENST00000280904.10:c.630+279_630+280insGG	ENSP00000280904.6:n.630+279_630+280insGG
NM_004949.4:c.630+279_630+280insGG	NP_004940.1:n.630+279_630+280insGG
NM_024422.4:c.630+279_630+280insGG	NP_077740.1:n.630+279_630+280insGG
XM_005258206.3:c.201+279_201+280insGG	XP_005258263.1:n.201+279_201+280insGG
XM_005258206.4:c.201+279_201+280insGG	XP_005258263.1:n.201+279_201+280insGG
NM_004949.5:c.630+279_630+280insGG	NP_004940.1:n.630+279_630+280insGG
NM_024422.6:c.630+279_630+280insGG MANE Select	NP_077740.1:n.630+279_630+280insGG