Canonical Allele Identifier: CA988889895
Gene: DSC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089163_31089164insAAAA , CM000680.2:g.31089163_31089164insAAAA GRCh38
NC_000018.9:g.28669126_28669127insAAAA , CM000680.1:g.28669126_28669127insAAAA GRCh37
NC_000018.8:g.26923124_26923125insAAAA NCBI36
NG_008208.2:g.18262_18263insTTTT , LRG_400:g.18262_18263insTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.201+275_201+276insTTTT ENSP00000507826.1:n.201+275_201+276insTTTT
ENST00000251081.8:c.630+275_630+276insTTTT ENSP00000251081.6:n.630+275_630+276insTTTT
ENST00000280904.11:c.630+275_630+276insTTTT MANE Select ENSP00000280904.6:n.630+275_630+276insTTTT
ENST00000648081.1:c.201+275_201+276insTTTT ENSP00000497441.1:n.201+275_201+276insTTTT
ENST00000251081.6:c.630+275_630+276insTTTT ENSP00000251081.6:n.630+275_630+276insTTTT
ENST00000280904.10:c.630+275_630+276insTTTT ENSP00000280904.6:n.630+275_630+276insTTTT
NM_004949.4:c.630+275_630+276insTTTT NP_004940.1:n.630+275_630+276insTTTT
NM_024422.4:c.630+275_630+276insTTTT NP_077740.1:n.630+275_630+276insTTTT
XM_005258206.3:c.201+275_201+276insTTTT XP_005258263.1:n.201+275_201+276insTTTT
XM_005258206.4:c.201+275_201+276insTTTT XP_005258263.1:n.201+275_201+276insTTTT
NM_004949.5:c.630+275_630+276insTTTT NP_004940.1:n.630+275_630+276insTTTT
NM_024422.6:c.630+275_630+276insTTTT MANE Select NP_077740.1:n.630+275_630+276insTTTT