Canonical Allele Identifier: CA629136613
Gene: DSC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089169_31089170insGA , CM000680.2:g.31089169_31089170insGA GRCh38
NC_000018.9:g.28669132_28669133insGA , CM000680.1:g.28669132_28669133insGA GRCh37
NC_000018.8:g.26923130_26923131insGA NCBI36
NG_008208.2:g.18257_18258insCT , LRG_400:g.18257_18258insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.201+270_201+271insCT ENSP00000507826.1:n.201+270_201+271insCT
ENST00000251081.8:c.630+270_630+271insCT ENSP00000251081.6:n.630+270_630+271insCT
ENST00000280904.11:c.630+270_630+271insCT MANE Select ENSP00000280904.6:n.630+270_630+271insCT
ENST00000648081.1:c.201+270_201+271insCT ENSP00000497441.1:n.201+270_201+271insCT
ENST00000251081.6:c.630+270_630+271insCT ENSP00000251081.6:n.630+270_630+271insCT
ENST00000280904.10:c.630+270_630+271insCT ENSP00000280904.6:n.630+270_630+271insCT
NM_004949.4:c.630+270_630+271insCT NP_004940.1:n.630+270_630+271insCT
NM_024422.4:c.630+270_630+271insCT NP_077740.1:n.630+270_630+271insCT
XM_005258206.3:c.201+270_201+271insCT XP_005258263.1:n.201+270_201+271insCT
XM_005258206.4:c.201+270_201+271insCT XP_005258263.1:n.201+270_201+271insCT
NM_004949.5:c.630+270_630+271insCT NP_004940.1:n.630+270_630+271insCT
NM_024422.6:c.630+270_630+271insCT MANE Select NP_077740.1:n.630+270_630+271insCT