Canonical Allele Identifier: CA2293646597

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070639_31070640delinsCT , CM000680.2:g.31070639_31070640delinsCT	GRCh38
NC_000018.9:g.28650605_28650606delinsCT , CM000680.1:g.28650605_28650606delinsCT	GRCh37
NC_000018.8:g.26904603_26904604delinsCT	NCBI36
NG_008208.2:g.36786_36787delinsAG , LRG_400:g.36786_36787delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682357.1:c.1821+86_1821+87delinsAG	ENSP00000507826.1:n.1821+86_1821+87delins...
ENST00000251081.8:c.2250+86_2250+87delinsAG	ENSP00000251081.6:n.2250+86_2250+87delins...
ENST00000280904.11:c.2250+86_2250+87delinsAG MANE Select	ENSP00000280904.6:n.2250+86_2250+87delins...
ENST00000648081.1:c.1821+86_1821+87delinsAG	ENSP00000497441.1:n.1821+86_1821+87delins...
ENST00000251081.6:c.2250+86_2250+87delinsAG	ENSP00000251081.6:n.2250+86_2250+87delins...
ENST00000280904.10:c.2250+86_2250+87delinsAG	ENSP00000280904.6:n.2250+86_2250+87delins...
NM_004949.4:c.2250+86_2250+87delinsAG	NP_004940.1:n.2250+86_2250+87delinsAG
NM_024422.4:c.2250+86_2250+87delinsAG	NP_077740.1:n.2250+86_2250+87delinsAG
XM_005258206.3:c.1821+86_1821+87delinsAG	XP_005258263.1:n.1821+86_1821+87delinsAG
XM_005258206.4:c.1821+86_1821+87delinsAG	XP_005258263.1:n.1821+86_1821+87delinsAG
NM_004949.5:c.2250+86_2250+87delinsAG	NP_004940.1:n.2250+86_2250+87delinsAG
NM_024422.6:c.2250+86_2250+87delinsAG MANE Select	NP_077740.1:n.2250+86_2250+87delinsAG