Canonical Allele Identifier: CA2293654808

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089208_31089209delinsTG , CM000680.2:g.31089208_31089209delinsTG	GRCh38
NC_000018.9:g.28669171_28669172delinsTG , CM000680.1:g.28669171_28669172delinsTG	GRCh37
NC_000018.8:g.26923169_26923170delinsTG	NCBI36
NG_008208.2:g.18217_18218delinsCA , LRG_400:g.18217_18218delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+230_201+231delinsCA	ENSP00000507826.1:n.201+230_201+231delinsCA
ENST00000251081.8:c.630+230_630+231delinsCA	ENSP00000251081.6:n.630+230_630+231delinsCA
ENST00000280904.11:c.630+230_630+231delinsCA MANE Select	ENSP00000280904.6:n.630+230_630+231delinsCA
ENST00000648081.1:c.201+230_201+231delinsCA	ENSP00000497441.1:n.201+230_201+231delinsCA
ENST00000251081.6:c.630+230_630+231delinsCA	ENSP00000251081.6:n.630+230_630+231delinsCA
ENST00000280904.10:c.630+230_630+231delinsCA	ENSP00000280904.6:n.630+230_630+231delinsCA
NM_004949.4:c.630+230_630+231delinsCA	NP_004940.1:n.630+230_630+231delinsCA
NM_024422.4:c.630+230_630+231delinsCA	NP_077740.1:n.630+230_630+231delinsCA
XM_005258206.3:c.201+230_201+231delinsCA	XP_005258263.1:n.201+230_201+231delinsCA
XM_005258206.4:c.201+230_201+231delinsCA	XP_005258263.1:n.201+230_201+231delinsCA
NM_004949.5:c.630+230_630+231delinsCA	NP_004940.1:n.630+230_630+231delinsCA
NM_024422.6:c.630+230_630+231delinsCA MANE Select	NP_077740.1:n.630+230_630+231delinsCA