Canonical Allele Identifier: CA2293645132
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31067346_31067347delinsTA , CM000680.2:g.31067346_31067347delinsTA GRCh38
NC_000018.9:g.28647312_28647313delinsTA , CM000680.1:g.28647312_28647313delinsTA GRCh37
NC_000018.8:g.26901310_26901311delinsTA NCBI36
NG_008208.2:g.40079_40080delinsTA , LRG_400:g.40079_40080delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.*668_*669delinsTA ENSP00000507826.1:n.*668_*669delinsTA
ENST00000251081.8:c.*876_*877delinsTA ENSP00000251081.6:n.*876_*877delinsTA
ENST00000280904.11:c.*668_*669delinsTA MANE Select ENSP00000280904.6:n.*668_*669delinsTA
ENST00000648081.1:c.*668_*669delinsTA ENSP00000497441.1:n.*668_*669delinsTA
ENST00000251081.6:c.*876_*877delinsTA ENSP00000251081.6:n.*876_*877delinsTA
ENST00000280904.10:c.*668_*669delinsTA ENSP00000280904.6:n.*668_*669delinsTA
NM_004949.4:c.*876_*877delinsTA NP_004940.1:n.*876_*877delinsTA
NM_024422.4:c.*668_*669delinsTA NP_077740.1:n.*668_*669delinsTA
XM_005258206.3:c.*668_*669delinsTA XP_005258263.1:n.*668_*669delinsTA
XM_005258206.4:c.*668_*669delinsTA XP_005258263.1:n.*668_*669delinsTA
NM_004949.5:c.*876_*877delinsTA NP_004940.1:n.*876_*877delinsTA
NM_024422.6:c.*668_*669delinsTA MANE Select NP_077740.1:n.*668_*669delinsTA