Canonical Allele Identifier: CA2293646607
Gene: DSC2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31070661_31070663delinsTAG , CM000680.2:g.31070661_31070663delinsTAG GRCh38
NC_000018.9:g.28650627_28650629delinsTAG , CM000680.1:g.28650627_28650629delinsTAG GRCh37
NC_000018.8:g.26904625_26904627delinsTAG NCBI36
NG_008208.2:g.36763_36765delinsCTA , LRG_400:g.36763_36765delinsCTA

Transcript Alleles

HGVS Amino-acid change
ENST00000682357.1:c.1821+63_1821+65delinsCTA ENSP00000507826.1:n.1821+63_1821+65delins...
ENST00000251081.8:c.2250+63_2250+65delinsCTA ENSP00000251081.6:n.2250+63_2250+65delins...
ENST00000280904.11:c.2250+63_2250+65delinsCTA MANE Select ENSP00000280904.6:n.2250+63_2250+65delins...
ENST00000648081.1:c.1821+63_1821+65delinsCTA ENSP00000497441.1:n.1821+63_1821+65delins...
ENST00000251081.6:c.2250+63_2250+65delinsCTA ENSP00000251081.6:n.2250+63_2250+65delins...
ENST00000280904.10:c.2250+63_2250+65delinsCTA ENSP00000280904.6:n.2250+63_2250+65delins...
NM_004949.4:c.2250+63_2250+65delinsCTA NP_004940.1:n.2250+63_2250+65delinsCTA
NM_024422.4:c.2250+63_2250+65delinsCTA NP_077740.1:n.2250+63_2250+65delinsCTA
XM_005258206.3:c.1821+63_1821+65delinsCTA XP_005258263.1:n.1821+63_1821+65delinsCTA...
XM_005258206.4:c.1821+63_1821+65delinsCTA XP_005258263.1:n.1821+63_1821+65delinsCTA...
NM_004949.5:c.2250+63_2250+65delinsCTA NP_004940.1:n.2250+63_2250+65delinsCTA
NM_024422.6:c.2250+63_2250+65delinsCTA MANE Select NP_077740.1:n.2250+63_2250+65delinsCTA
Search 100 bp 5'
Search 100 bp 3'