Canonical Allele Identifier: CA988889756
Gene: DSC2 HGNC NCBI

Linked Data

dbSNP Id: rs910911136

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31067294_31067297del , CM000680.2:g.31067294_31067297del GRCh38
NC_000018.9:g.28647260_28647263del , CM000680.1:g.28647260_28647263del GRCh37
NC_000018.8:g.26901258_26901261del NCBI36
NG_008208.2:g.40132_40135del , LRG_400:g.40132_40135del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.*721_*724del ENSP00000507826.1:n.*721_*724del
ENST00000251081.8:c.*929_*932del ENSP00000251081.6:n.*929_*932del
ENST00000280904.11:c.*721_*724del MANE Select ENSP00000280904.6:n.*721_*724del
ENST00000648081.1:c.*721_*724del ENSP00000497441.1:n.*721_*724del
ENST00000251081.6:c.*929_*932del ENSP00000251081.6:n.*929_*932del
ENST00000280904.10:c.*721_*724del ENSP00000280904.6:n.*721_*724del
NM_004949.4:c.*929_*932del NP_004940.1:n.*929_*932del
NM_024422.4:c.*721_*724del NP_077740.1:n.*721_*724del
XM_005258206.3:c.*721_*724del XP_005258263.1:n.*721_*724del
XM_005258206.4:c.*721_*724del XP_005258263.1:n.*721_*724del
NM_004949.5:c.*929_*932del NP_004940.1:n.*929_*932del
NM_024422.6:c.*721_*724del MANE Select NP_077740.1:n.*721_*724del