Canonical Allele Identifier: CA2293654813

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089213_31089214delinsGA , CM000680.2:g.31089213_31089214delinsGA	GRCh38
NC_000018.9:g.28669176_28669177delinsGA , CM000680.1:g.28669176_28669177delinsGA	GRCh37
NC_000018.8:g.26923174_26923175delinsGA	NCBI36
NG_008208.2:g.18212_18213delinsTC , LRG_400:g.18212_18213delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+225_201+226delinsTC	ENSP00000507826.1:n.201+225_201+226delinsTC
ENST00000251081.8:c.630+225_630+226delinsTC	ENSP00000251081.6:n.630+225_630+226delinsTC
ENST00000280904.11:c.630+225_630+226delinsTC MANE Select	ENSP00000280904.6:n.630+225_630+226delinsTC
ENST00000648081.1:c.201+225_201+226delinsTC	ENSP00000497441.1:n.201+225_201+226delinsTC
ENST00000251081.6:c.630+225_630+226delinsTC	ENSP00000251081.6:n.630+225_630+226delinsTC
ENST00000280904.10:c.630+225_630+226delinsTC	ENSP00000280904.6:n.630+225_630+226delinsTC
NM_004949.4:c.630+225_630+226delinsTC	NP_004940.1:n.630+225_630+226delinsTC
NM_024422.4:c.630+225_630+226delinsTC	NP_077740.1:n.630+225_630+226delinsTC
XM_005258206.3:c.201+225_201+226delinsTC	XP_005258263.1:n.201+225_201+226delinsTC
XM_005258206.4:c.201+225_201+226delinsTC	XP_005258263.1:n.201+225_201+226delinsTC
NM_004949.5:c.630+225_630+226delinsTC	NP_004940.1:n.630+225_630+226delinsTC
NM_024422.6:c.630+225_630+226delinsTC MANE Select	NP_077740.1:n.630+225_630+226delinsTC