Canonical Allele Identifier: CA2641388366

Gene: DSC2

Linked Data

• gnomAD v4: 18-31070965-CAGCTTTCCTGGATTGCTTGTGTCAAAGCAGTATACAATAGAAAAGTTTAAATAGATATGCTATTTAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070968_31071035del , CM000680.2:g.31070968_31071035del	GRCh38
NC_000018.9:g.28650934_28651001del , CM000680.1:g.28650934_28651001del	GRCh37
NC_000018.8:g.26904932_26904999del	NCBI36
NG_008208.2:g.36393_36460del , LRG_400:g.36393_36460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1697-183_1697-116del	ENSP00000507826.1:n.1697-183_1697-116del
ENST00000251081.8:c.2126-183_2126-116del	ENSP00000251081.6:n.2126-183_2126-116del
ENST00000280904.11:c.2126-183_2126-116del MANE Select	ENSP00000280904.6:n.2126-183_2126-116del
ENST00000648081.1:c.1697-183_1697-116del	ENSP00000497441.1:n.1697-183_1697-116del
ENST00000251081.6:c.2126-183_2126-116del	ENSP00000251081.6:n.2126-183_2126-116del
ENST00000280904.10:c.2126-183_2126-116del	ENSP00000280904.6:n.2126-183_2126-116del
NM_004949.4:c.2126-183_2126-116del	NP_004940.1:n.2126-183_2126-116del
NM_024422.4:c.2126-183_2126-116del	NP_077740.1:n.2126-183_2126-116del
XM_005258206.3:c.1697-183_1697-116del	XP_005258263.1:n.1697-183_1697-116del
XM_005258206.4:c.1697-183_1697-116del	XP_005258263.1:n.1697-183_1697-116del
NM_004949.5:c.2126-183_2126-116del	NP_004940.1:n.2126-183_2126-116del
NM_024422.6:c.2126-183_2126-116del MANE Select	NP_077740.1:n.2126-183_2126-116del