Canonical Allele Identifier: CA629140459

Gene: DSC2

Linked Data

• gnomAD v2: 18-28650983-TAGATATGCTATTTAAAAGTTTAAATAGCATATCTACTTAAACTTTTAAAC-T
• MyVariant Identifiers: chr18:g.28650984_28651033del (hg19) ; chr18:g.31071018_31071067del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31071029_31071078del , CM000680.2:g.31071029_31071078del	GRCh38
NC_000018.9:g.28650995_28651044del , CM000680.1:g.28650995_28651044del	GRCh37
NC_000018.8:g.26904993_26905042del	NCBI36
NG_008208.2:g.36359_36408del , LRG_400:g.36359_36408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1697-217_1697-168del	ENSP00000507826.1:n.1697-217_1697-168del
ENST00000251081.8:c.2126-217_2126-168del	ENSP00000251081.6:n.2126-217_2126-168del
ENST00000280904.11:c.2126-217_2126-168del MANE Select	ENSP00000280904.6:n.2126-217_2126-168del
ENST00000648081.1:c.1697-217_1697-168del	ENSP00000497441.1:n.1697-217_1697-168del
ENST00000251081.6:c.2126-217_2126-168del	ENSP00000251081.6:n.2126-217_2126-168del
ENST00000280904.10:c.2126-217_2126-168del	ENSP00000280904.6:n.2126-217_2126-168del
NM_004949.4:c.2126-217_2126-168del	NP_004940.1:n.2126-217_2126-168del
NM_024422.4:c.2126-217_2126-168del	NP_077740.1:n.2126-217_2126-168del
XM_005258206.3:c.1697-217_1697-168del	XP_005258263.1:n.1697-217_1697-168del
XM_005258206.4:c.1697-217_1697-168del	XP_005258263.1:n.1697-217_1697-168del
NM_004949.5:c.2126-217_2126-168del	NP_004940.1:n.2126-217_2126-168del
NM_024422.6:c.2126-217_2126-168del MANE Select	NP_077740.1:n.2126-217_2126-168del