Canonical Allele Identifier: CA2293646608

Gene: DSC2

Linked Data

• dbSNP Id: rs1986791534

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070663_31070664del , CM000680.2:g.31070663_31070664del	GRCh38
NC_000018.9:g.28650629_28650630del , CM000680.1:g.28650629_28650630del	GRCh37
NC_000018.8:g.26904627_26904628del	NCBI36
NG_008208.2:g.36763_36764del , LRG_400:g.36763_36764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1821+63_1821+64del	ENSP00000507826.1:n.1821+63_1821+64del
ENST00000251081.8:c.2250+63_2250+64del	ENSP00000251081.6:n.2250+63_2250+64del
ENST00000280904.11:c.2250+63_2250+64del MANE Select	ENSP00000280904.6:n.2250+63_2250+64del
ENST00000648081.1:c.1821+63_1821+64del	ENSP00000497441.1:n.1821+63_1821+64del
ENST00000251081.6:c.2250+63_2250+64del	ENSP00000251081.6:n.2250+63_2250+64del
ENST00000280904.10:c.2250+63_2250+64del	ENSP00000280904.6:n.2250+63_2250+64del
NM_004949.4:c.2250+63_2250+64del	NP_004940.1:n.2250+63_2250+64del
NM_024422.4:c.2250+63_2250+64del	NP_077740.1:n.2250+63_2250+64del
XM_005258206.3:c.1821+63_1821+64del	XP_005258263.1:n.1821+63_1821+64del
XM_005258206.4:c.1821+63_1821+64del	XP_005258263.1:n.1821+63_1821+64del
NM_004949.5:c.2250+63_2250+64del	NP_004940.1:n.2250+63_2250+64del
NM_024422.6:c.2250+63_2250+64del MANE Select	NP_077740.1:n.2250+63_2250+64del