Canonical Allele Identifier: CA988889938

Gene: DSC2

Linked Data

• gnomAD v3: 18-31089183-ACTGTTCTTC-A
• gnomAD v4: 18-31089183-ACTGTTCTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089184_31089192del , CM000680.2:g.31089184_31089192del	GRCh38
NC_000018.9:g.28669147_28669155del , CM000680.1:g.28669147_28669155del	GRCh37
NC_000018.8:g.26923145_26923153del	NCBI36
NG_008208.2:g.18234_18242del , LRG_400:g.18234_18242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+247_201+255del	ENSP00000507826.1:n.201+247_201+255del
ENST00000251081.8:c.630+247_630+255del	ENSP00000251081.6:n.630+247_630+255del
ENST00000280904.11:c.630+247_630+255del MANE Select	ENSP00000280904.6:n.630+247_630+255del
ENST00000648081.1:c.201+247_201+255del	ENSP00000497441.1:n.201+247_201+255del
ENST00000251081.6:c.630+247_630+255del	ENSP00000251081.6:n.630+247_630+255del
ENST00000280904.10:c.630+247_630+255del	ENSP00000280904.6:n.630+247_630+255del
NM_004949.4:c.630+247_630+255del	NP_004940.1:n.630+247_630+255del
NM_024422.4:c.630+247_630+255del	NP_077740.1:n.630+247_630+255del
XM_005258206.3:c.201+247_201+255del	XP_005258263.1:n.201+247_201+255del
XM_005258206.4:c.201+247_201+255del	XP_005258263.1:n.201+247_201+255del
NM_004949.5:c.630+247_630+255del	NP_004940.1:n.630+247_630+255del
NM_024422.6:c.630+247_630+255del MANE Select	NP_077740.1:n.630+247_630+255del