Canonical Allele Identifier: CA988889878

Gene: DSC2

Linked Data

• gnomAD v3: 18-31089155-ATG-A
• gnomAD v4: 18-31089155-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089156_31089157del , CM000680.2:g.31089156_31089157del	GRCh38
NC_000018.9:g.28669119_28669120del , CM000680.1:g.28669119_28669120del	GRCh37
NC_000018.8:g.26923117_26923118del	NCBI36
NG_008208.2:g.18269_18270del , LRG_400:g.18269_18270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+282_201+283del	ENSP00000507826.1:n.201+282_201+283del
ENST00000251081.8:c.630+282_630+283del	ENSP00000251081.6:n.630+282_630+283del
ENST00000280904.11:c.630+282_630+283del MANE Select	ENSP00000280904.6:n.630+282_630+283del
ENST00000648081.1:c.201+282_201+283del	ENSP00000497441.1:n.201+282_201+283del
ENST00000251081.6:c.630+282_630+283del	ENSP00000251081.6:n.630+282_630+283del
ENST00000280904.10:c.630+282_630+283del	ENSP00000280904.6:n.630+282_630+283del
NM_004949.4:c.630+282_630+283del	NP_004940.1:n.630+282_630+283del
NM_024422.4:c.630+282_630+283del	NP_077740.1:n.630+282_630+283del
XM_005258206.3:c.201+282_201+283del	XP_005258263.1:n.201+282_201+283del
XM_005258206.4:c.201+282_201+283del	XP_005258263.1:n.201+282_201+283del
NM_004949.5:c.630+282_630+283del	NP_004940.1:n.630+282_630+283del
NM_024422.6:c.630+282_630+283del MANE Select	NP_077740.1:n.630+282_630+283del