Canonical Allele Identifier: CA2293654790

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089183_31089191delinsACTGTTCTT , CM000680.2:g.31089183_31089191delinsACTGTTCTT	GRCh38
NC_000018.9:g.28669146_28669154delinsACTGTTCTT , CM000680.1:g.28669146_28669154delinsACTGTTCTT	GRCh37
NC_000018.8:g.26923144_26923152delinsACTGTTCTT	NCBI36
NG_008208.2:g.18235_18243delinsAAGAACAGT , LRG_400:g.18235_18243delinsAAGAACAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+248_201+256delinsAAGAACAGT	ENSP00000507826.1:n.201+248_201+256delinsAAGAACAGT
ENST00000251081.8:c.630+248_630+256delinsAAGAACAGT	ENSP00000251081.6:n.630+248_630+256delinsAAGAACAGT
ENST00000280904.11:c.630+248_630+256delinsAAGAACAGT MANE Select	ENSP00000280904.6:n.630+248_630+256delinsAAGAACAGT
ENST00000648081.1:c.201+248_201+256delinsAAGAACAGT	ENSP00000497441.1:n.201+248_201+256delinsAAGAACAGT
ENST00000251081.6:c.630+248_630+256delinsAAGAACAGT	ENSP00000251081.6:n.630+248_630+256delinsAAGAACAGT
ENST00000280904.10:c.630+248_630+256delinsAAGAACAGT	ENSP00000280904.6:n.630+248_630+256delinsAAGAACAGT
NM_004949.4:c.630+248_630+256delinsAAGAACAGT	NP_004940.1:n.630+248_630+256delinsAAGAACAGT
NM_024422.4:c.630+248_630+256delinsAAGAACAGT	NP_077740.1:n.630+248_630+256delinsAAGAACAGT
XM_005258206.3:c.201+248_201+256delinsAAGAACAGT	XP_005258263.1:n.201+248_201+256delinsAAGAACAGT
XM_005258206.4:c.201+248_201+256delinsAAGAACAGT	XP_005258263.1:n.201+248_201+256delinsAAGAACAGT
NM_004949.5:c.630+248_630+256delinsAAGAACAGT	NP_004940.1:n.630+248_630+256delinsAAGAACAGT
NM_024422.6:c.630+248_630+256delinsAAGAACAGT MANE Select	NP_077740.1:n.630+248_630+256delinsAAGAACAGT