Canonical Allele Identifier: CA2293646628

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31070703_31070704delinsAT , CM000680.2:g.31070703_31070704delinsAT	GRCh38
NC_000018.9:g.28650669_28650670delinsAT , CM000680.1:g.28650669_28650670delinsAT	GRCh37
NC_000018.8:g.26904667_26904668delinsAT	NCBI36
NG_008208.2:g.36722_36723delinsAT , LRG_400:g.36722_36723delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1821+22_1821+23delinsAT	ENSP00000507826.1:n.1821+22_1821+23delinsAT
ENST00000251081.8:c.2250+22_2250+23delinsAT	ENSP00000251081.6:n.2250+22_2250+23delinsAT
ENST00000280904.11:c.2250+22_2250+23delinsAT MANE Select	ENSP00000280904.6:n.2250+22_2250+23delinsAT
ENST00000648081.1:c.1821+22_1821+23delinsAT	ENSP00000497441.1:n.1821+22_1821+23delinsAT
ENST00000251081.6:c.2250+22_2250+23delinsAT	ENSP00000251081.6:n.2250+22_2250+23delinsAT
ENST00000280904.10:c.2250+22_2250+23delinsAT	ENSP00000280904.6:n.2250+22_2250+23delinsAT
NM_004949.4:c.2250+22_2250+23delinsAT	NP_004940.1:n.2250+22_2250+23delinsAT
NM_024422.4:c.2250+22_2250+23delinsAT	NP_077740.1:n.2250+22_2250+23delinsAT
XM_005258206.3:c.1821+22_1821+23delinsAT	XP_005258263.1:n.1821+22_1821+23delinsAT
XM_005258206.4:c.1821+22_1821+23delinsAT	XP_005258263.1:n.1821+22_1821+23delinsAT
NM_004949.5:c.2250+22_2250+23delinsAT	NP_004940.1:n.2250+22_2250+23delinsAT
NM_024422.6:c.2250+22_2250+23delinsAT MANE Select	NP_077740.1:n.2250+22_2250+23delinsAT