Canonical Allele Identifier: CA2293646626

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070699_31070704delinsATTTAT , CM000680.2:g.31070699_31070704delinsATTTAT	GRCh38
NC_000018.9:g.28650665_28650670delinsATTTAT , CM000680.1:g.28650665_28650670delinsATTTAT	GRCh37
NC_000018.8:g.26904663_26904668delinsATTTAT	NCBI36
NG_008208.2:g.36722_36727delinsATAAAT , LRG_400:g.36722_36727delinsATAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1821+22_1821+27delinsATAAAT	ENSP00000507826.1:n.1821+22_1821+27delinsATAAAT
ENST00000251081.8:c.2250+22_2250+27delinsATAAAT	ENSP00000251081.6:n.2250+22_2250+27delinsATAAAT
ENST00000280904.11:c.2250+22_2250+27delinsATAAAT MANE Select	ENSP00000280904.6:n.2250+22_2250+27delinsATAAAT
ENST00000648081.1:c.1821+22_1821+27delinsATAAAT	ENSP00000497441.1:n.1821+22_1821+27delinsATAAAT
ENST00000251081.6:c.2250+22_2250+27delinsATAAAT	ENSP00000251081.6:n.2250+22_2250+27delinsATAAAT
ENST00000280904.10:c.2250+22_2250+27delinsATAAAT	ENSP00000280904.6:n.2250+22_2250+27delinsATAAAT
NM_004949.4:c.2250+22_2250+27delinsATAAAT	NP_004940.1:n.2250+22_2250+27delinsATAAAT
NM_024422.4:c.2250+22_2250+27delinsATAAAT	NP_077740.1:n.2250+22_2250+27delinsATAAAT
XM_005258206.3:c.1821+22_1821+27delinsATAAAT	XP_005258263.1:n.1821+22_1821+27delinsATAAAT
XM_005258206.4:c.1821+22_1821+27delinsATAAAT	XP_005258263.1:n.1821+22_1821+27delinsATAAAT
NM_004949.5:c.2250+22_2250+27delinsATAAAT	NP_004940.1:n.2250+22_2250+27delinsATAAAT
NM_024422.6:c.2250+22_2250+27delinsATAAAT MANE Select	NP_077740.1:n.2250+22_2250+27delinsATAAAT