Canonical Allele Identifier: CA351719
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 222592
ClinVar RCV Id: RCV000208031
dbSNP Id: rs869025399

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7582987del , CM000668.2:g.7582987del GRCh38
NC_000006.11:g.7583220del , CM000668.1:g.7583220del GRCh37
NC_000006.10:g.7528219del NCBI36
NG_008803.1:g.46351del , LRG_423:g.46351del

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.4396del ENSP00000518230.1:p.Ile1466LeufsTer20
ENST00000379802.8:c.5725del MANE Select ENSP00000369129.3:p.Ile1909LeufsTer20
ENST00000379802.7:c.5725del ENSP00000369129.3:p.Ile1909LeufsTer20
ENST00000418664.2:c.3928del ENSP00000396591.2:p.Ile1310LeufsTer20
NM_001008844.1:c.3928del NP_001008844.1:p.Ile1310LeufsTer20
NM_004415.2:c.5725del , LRG_423t1:c.5725del NP_004406.2:p.Ile1909LeufsTer20
XM_011514323.1:c.4396del XP_011512625.1:p.Ile1466LeufsTer20
NM_001008844.2:c.3928del NP_001008844.1:p.Ile1310LeufsTer20
NM_001319034.1:c.4396del NP_001305963.1:p.Ile1466LeufsTer20
NM_004415.3:c.5725del NP_004406.2:p.Ile1909LeufsTer20
NM_004415.4:c.5725del MANE Select NP_004406.2:p.Ile1909LeufsTer20
NM_001008844.3:c.3928del NP_001008844.1:p.Ile1310LeufsTer20
NM_001319034.2:c.4396del NP_001305963.1:p.Ile1466LeufsTer20