Canonical Allele Identifier: CA988889730

Gene: DSC2

Linked Data

• gnomAD v3: 18-31067249-T-TA
• gnomAD v4: 18-31067249-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31067249_31067250insA , CM000680.2:g.31067249_31067250insA	GRCh38
NC_000018.9:g.28647215_28647216insA , CM000680.1:g.28647215_28647216insA	GRCh37
NC_000018.8:g.26901213_26901214insA	NCBI36
NG_008208.2:g.40176_40177insT , LRG_400:g.40176_40177insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*765_*766insT	ENSP00000507826.1:n.*765_*766insT
ENST00000251081.8:c.*973_*974insT	ENSP00000251081.6:n.*973_*974insT
ENST00000280904.11:c.*765_*766insT MANE Select	ENSP00000280904.6:n.*765_*766insT
ENST00000648081.1:c.*765_*766insT	ENSP00000497441.1:n.*765_*766insT
ENST00000251081.6:c.*973_*974insT	ENSP00000251081.6:n.*973_*974insT
ENST00000280904.10:c.*765_*766insT	ENSP00000280904.6:n.*765_*766insT
NM_004949.4:c.*973_*974insT	NP_004940.1:n.*973_*974insT
NM_024422.4:c.*765_*766insT	NP_077740.1:n.*765_*766insT
XM_005258206.3:c.*765_*766insT	XP_005258263.1:n.*765_*766insT
XM_005258206.4:c.*765_*766insT	XP_005258263.1:n.*765_*766insT
NM_004949.5:c.*973_*974insT	NP_004940.1:n.*973_*974insT
NM_024422.6:c.*765_*766insT MANE Select	NP_077740.1:n.*765_*766insT