Canonical Allele Identifier: CA2811993237

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089171_31089172insGTAA , CM000680.2:g.31089171_31089172insGTAA	GRCh38
NC_000018.9:g.28669134_28669135insGTAA , CM000680.1:g.28669134_28669135insGTAA	GRCh37
NC_000018.8:g.26923132_26923133insGTAA	NCBI36
NG_008208.2:g.18256_18257insACTT , LRG_400:g.18256_18257insACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+269_201+270insACTT	ENSP00000507826.1:n.201+269_201+270insACTT
ENST00000251081.8:c.630+269_630+270insACTT	ENSP00000251081.6:n.630+269_630+270insACTT
ENST00000280904.11:c.630+269_630+270insACTT MANE Select	ENSP00000280904.6:n.630+269_630+270insACTT
ENST00000648081.1:c.201+269_201+270insACTT	ENSP00000497441.1:n.201+269_201+270insACTT
ENST00000251081.6:c.630+269_630+270insACTT	ENSP00000251081.6:n.630+269_630+270insACTT
ENST00000280904.10:c.630+269_630+270insACTT	ENSP00000280904.6:n.630+269_630+270insACTT
NM_004949.4:c.630+269_630+270insACTT	NP_004940.1:n.630+269_630+270insACTT
NM_024422.4:c.630+269_630+270insACTT	NP_077740.1:n.630+269_630+270insACTT
XM_005258206.3:c.201+269_201+270insACTT	XP_005258263.1:n.201+269_201+270insACTT
XM_005258206.4:c.201+269_201+270insACTT	XP_005258263.1:n.201+269_201+270insACTT
NM_004949.5:c.630+269_630+270insACTT	NP_004940.1:n.630+269_630+270insACTT
NM_024422.6:c.630+269_630+270insACTT MANE Select	NP_077740.1:n.630+269_630+270insACTT