Canonical Allele Identifier: CA004913
Gene: DSP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36017
ClinVar RCV Id: RCV000029676
dbSNP Id: rs193922668

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7568554_7568556del , CM000668.2:g.7568554_7568556del GRCh38
NC_000006.10:g.7513786_7513788del NCBI36
NC_000006.11:g.7568787_7568789del , CM000668.1:g.7568787_7568789del GRCh37
NG_008803.1:g.31918_31920del , LRG_423:g.31918_31920del

Transcript Alleles

HGVS Amino-acid change
ENST00000379802.7:c.1384_1386del ENSP00000369129.3:p.Ile462del
ENST00000418664.2:c.1384_1386del ENSP00000396591.2:p.Ile462del
NM_001008844.1:c.1384_1386del VV NP_001008844.1:p.Ile462del
NM_004415.2:c.1384_1386del , LRG_423t1:c.1384_1386del NP_004406.2:p.Ile462del
XM_011514323.1:c.1384_1386del XP_011512625.1:p.Ile462del