Canonical Allele Identifier: CA2293645074
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31067248_31067249delinsAT , CM000680.2:g.31067248_31067249delinsAT GRCh38
NC_000018.9:g.28647214_28647215delinsAT , CM000680.1:g.28647214_28647215delinsAT GRCh37
NC_000018.8:g.26901212_26901213delinsAT NCBI36
NG_008208.2:g.40177_40178delinsAT , LRG_400:g.40177_40178delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.*766_*767delinsAT ENSP00000507826.1:n.*766_*767delinsAT
ENST00000251081.8:c.*974_*975delinsAT ENSP00000251081.6:n.*974_*975delinsAT
ENST00000280904.11:c.*766_*767delinsAT MANE Select ENSP00000280904.6:n.*766_*767delinsAT
ENST00000648081.1:c.*766_*767delinsAT ENSP00000497441.1:n.*766_*767delinsAT
ENST00000251081.6:c.*974_*975delinsAT ENSP00000251081.6:n.*974_*975delinsAT
ENST00000280904.10:c.*766_*767delinsAT ENSP00000280904.6:n.*766_*767delinsAT
NM_004949.4:c.*974_*975delinsAT NP_004940.1:n.*974_*975delinsAT
NM_024422.4:c.*766_*767delinsAT NP_077740.1:n.*766_*767delinsAT
XM_005258206.3:c.*766_*767delinsAT XP_005258263.1:n.*766_*767delinsAT
XM_005258206.4:c.*766_*767delinsAT XP_005258263.1:n.*766_*767delinsAT
NM_004949.5:c.*974_*975delinsAT NP_004940.1:n.*974_*975delinsAT
NM_024422.6:c.*766_*767delinsAT MANE Select NP_077740.1:n.*766_*767delinsAT