Canonical Allele Identifier: CA2293646745
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31070942_31070943delinsTA , CM000680.2:g.31070942_31070943delinsTA GRCh38
NC_000018.9:g.28650908_28650909delinsTA , CM000680.1:g.28650908_28650909delinsTA GRCh37
NC_000018.8:g.26904906_26904907delinsTA NCBI36
NG_008208.2:g.36483_36484delinsTA , LRG_400:g.36483_36484delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.1697-93_1697-92delinsTA ENSP00000507826.1:n.1697-93_1697-92delinsTA
ENST00000251081.8:c.2126-93_2126-92delinsTA ENSP00000251081.6:n.2126-93_2126-92delinsTA
ENST00000280904.11:c.2126-93_2126-92delinsTA MANE Select ENSP00000280904.6:n.2126-93_2126-92delinsTA
ENST00000648081.1:c.1697-93_1697-92delinsTA ENSP00000497441.1:n.1697-93_1697-92delinsTA
ENST00000251081.6:c.2126-93_2126-92delinsTA ENSP00000251081.6:n.2126-93_2126-92delinsTA
ENST00000280904.10:c.2126-93_2126-92delinsTA ENSP00000280904.6:n.2126-93_2126-92delinsTA
NM_004949.4:c.2126-93_2126-92delinsTA NP_004940.1:n.2126-93_2126-92delinsTA
NM_024422.4:c.2126-93_2126-92delinsTA NP_077740.1:n.2126-93_2126-92delinsTA
XM_005258206.3:c.1697-93_1697-92delinsTA XP_005258263.1:n.1697-93_1697-92delinsTA
XM_005258206.4:c.1697-93_1697-92delinsTA XP_005258263.1:n.1697-93_1697-92delinsTA
NM_004949.5:c.2126-93_2126-92delinsTA NP_004940.1:n.2126-93_2126-92delinsTA
NM_024422.6:c.2126-93_2126-92delinsTA MANE Select NP_077740.1:n.2126-93_2126-92delinsTA