Canonical Allele Identifier: CA988889888

Gene: DSC2

Linked Data

• gnomAD v3: 18-31089161-TCTC-T
• gnomAD v4: 18-31089161-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089162_31089164del , CM000680.2:g.31089162_31089164del	GRCh38
NC_000018.9:g.28669125_28669127del , CM000680.1:g.28669125_28669127del	GRCh37
NC_000018.8:g.26923123_26923125del	NCBI36
NG_008208.2:g.18262_18264del , LRG_400:g.18262_18264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+275_201+277del	ENSP00000507826.1:n.201+275_201+277del
ENST00000251081.8:c.630+275_630+277del	ENSP00000251081.6:n.630+275_630+277del
ENST00000280904.11:c.630+275_630+277del MANE Select	ENSP00000280904.6:n.630+275_630+277del
ENST00000648081.1:c.201+275_201+277del	ENSP00000497441.1:n.201+275_201+277del
ENST00000251081.6:c.630+275_630+277del	ENSP00000251081.6:n.630+275_630+277del
ENST00000280904.10:c.630+275_630+277del	ENSP00000280904.6:n.630+275_630+277del
NM_004949.4:c.630+275_630+277del	NP_004940.1:n.630+275_630+277del
NM_024422.4:c.630+275_630+277del	NP_077740.1:n.630+275_630+277del
XM_005258206.3:c.201+275_201+277del	XP_005258263.1:n.201+275_201+277del
XM_005258206.4:c.201+275_201+277del	XP_005258263.1:n.201+275_201+277del
NM_004949.5:c.630+275_630+277del	NP_004940.1:n.630+275_630+277del
NM_024422.6:c.630+275_630+277del MANE Select	NP_077740.1:n.630+275_630+277del