Canonical Allele Identifier: CA2293645113

Gene: DSC2

Linked Data

• dbSNP Id: rs1986656723

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31067302_31067303insGGAGGG , CM000680.2:g.31067302_31067303insGGAGGG	GRCh38
NC_000018.9:g.28647268_28647269insGGAGGG , CM000680.1:g.28647268_28647269insGGAGGG	GRCh37
NC_000018.8:g.26901266_26901267insGGAGGG	NCBI36
NG_008208.2:g.40124_40125insCCTCCC , LRG_400:g.40124_40125insCCTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*713_*714insCCTCCC	ENSP00000507826.1:n.*713_*714insCCTCCC
ENST00000251081.8:c.*921_*922insCCTCCC	ENSP00000251081.6:n.*921_*922insCCTCCC
ENST00000280904.11:c.*713_*714insCCTCCC MANE Select	ENSP00000280904.6:n.*713_*714insCCTCCC
ENST00000648081.1:c.*713_*714insCCTCCC	ENSP00000497441.1:n.*713_*714insCCTCCC
ENST00000251081.6:c.*921_*922insCCTCCC	ENSP00000251081.6:n.*921_*922insCCTCCC
ENST00000280904.10:c.*713_*714insCCTCCC	ENSP00000280904.6:n.*713_*714insCCTCCC
NM_004949.4:c.*921_*922insCCTCCC	NP_004940.1:n.*921_*922insCCTCCC
NM_024422.4:c.*713_*714insCCTCCC	NP_077740.1:n.*713_*714insCCTCCC
XM_005258206.3:c.*713_*714insCCTCCC	XP_005258263.1:n.*713_*714insCCTCCC
XM_005258206.4:c.*713_*714insCCTCCC	XP_005258263.1:n.*713_*714insCCTCCC
NM_004949.5:c.*921_*922insCCTCCC	NP_004940.1:n.*921_*922insCCTCCC
NM_024422.6:c.*713_*714insCCTCCC MANE Select	NP_077740.1:n.*713_*714insCCTCCC