Canonical Allele Identifier: CA988889744

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31067267_31067282del , CM000680.2:g.31067267_31067282del	GRCh38
NC_000018.9:g.28647233_28647248del , CM000680.1:g.28647233_28647248del	GRCh37
NC_000018.8:g.26901231_26901246del	NCBI36
NG_008208.2:g.40144_40159del , LRG_400:g.40144_40159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*733_*748del	ENSP00000507826.1:n.*733_*748del
ENST00000251081.8:c.*941_*956del	ENSP00000251081.6:n.*941_*956del
ENST00000280904.11:c.*733_*748del MANE Select	ENSP00000280904.6:n.*733_*748del
ENST00000648081.1:c.*733_*748del	ENSP00000497441.1:n.*733_*748del
ENST00000251081.6:c.*941_*956del	ENSP00000251081.6:n.*941_*956del
ENST00000280904.10:c.*733_*748del	ENSP00000280904.6:n.*733_*748del
NM_004949.4:c.*941_*956del	NP_004940.1:n.*941_*956del
NM_024422.4:c.*733_*748del	NP_077740.1:n.*733_*748del
XM_005258206.3:c.*733_*748del	XP_005258263.1:n.*733_*748del
XM_005258206.4:c.*733_*748del	XP_005258263.1:n.*733_*748del
NM_004949.5:c.*941_*956del	NP_004940.1:n.*941_*956del
NM_024422.6:c.*733_*748del MANE Select	NP_077740.1:n.*733_*748del