Canonical Allele Identifier: CA2580075357
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 2136362
ClinVar RCV Id: RCV003060026

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7566406_7566411del , CM000668.2:g.7566406_7566411del GRCh38
NC_000006.11:g.7566639_7566644del , CM000668.1:g.7566639_7566644del GRCh37
NC_000006.10:g.7511638_7511643del NCBI36
NG_008803.1:g.29770_29775del , LRG_423:g.29770_29775del

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.969_974del ENSP00000518230.1:p.Lys324_Glu325del
ENST00000682228.1:n.293_298del
ENST00000379802.8:c.969_974del MANE Select ENSP00000369129.3:p.Lys324_Glu325del
ENST00000379802.7:c.969_974del ENSP00000369129.3:p.Lys324_Glu325del
ENST00000418664.2:c.969_974del ENSP00000396591.2:p.Lys324_Glu325del
NM_001008844.1:c.969_974del NP_001008844.1:p.Lys324_Glu325del
NM_004415.2:c.969_974del , LRG_423t1:c.969_974del NP_004406.2:p.Lys324_Glu325del
XM_011514323.1:c.969_974del XP_011512625.1:p.Lys324_Glu325del
NM_001008844.2:c.969_974del NP_001008844.1:p.Lys324_Glu325del
NM_001319034.1:c.969_974del NP_001305963.1:p.Lys324_Glu325del
NM_004415.3:c.969_974del NP_004406.2:p.Lys324_Glu325del
NM_004415.4:c.969_974del MANE Select NP_004406.2:p.Lys324_Glu325del
NM_001008844.3:c.969_974del NP_001008844.1:p.Lys324_Glu325del
NM_001319034.2:c.969_974del NP_001305963.1:p.Lys324_Glu325del