Canonical Allele Identifier: CA2510435311
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31067262_31067266del , CM000680.2:g.31067262_31067266del GRCh38
NC_000018.9:g.28647228_28647232del , CM000680.1:g.28647228_28647232del GRCh37
NC_000018.8:g.26901226_26901230del NCBI36
NG_008208.2:g.40171_40175del , LRG_400:g.40171_40175del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.*760_*764del ENSP00000507826.1:n.*760_*764del
ENST00000251081.8:c.*968_*972del ENSP00000251081.6:n.*968_*972del
ENST00000280904.11:c.*760_*764del MANE Select ENSP00000280904.6:n.*760_*764del
ENST00000648081.1:c.*760_*764del ENSP00000497441.1:n.*760_*764del
ENST00000251081.6:c.*968_*972del ENSP00000251081.6:n.*968_*972del
ENST00000280904.10:c.*760_*764del ENSP00000280904.6:n.*760_*764del
NM_004949.4:c.*968_*972del NP_004940.1:n.*968_*972del
NM_024422.4:c.*760_*764del NP_077740.1:n.*760_*764del
XM_005258206.3:c.*760_*764del XP_005258263.1:n.*760_*764del
XM_005258206.4:c.*760_*764del XP_005258263.1:n.*760_*764del
NM_004949.5:c.*968_*972del NP_004940.1:n.*968_*972del
NM_024422.6:c.*760_*764del MANE Select NP_077740.1:n.*760_*764del