Canonical Allele Identifier: CA2677234960
Gene: DSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7582926_7582927del , CM000668.2:g.7582926_7582927del GRCh38
NC_000006.11:g.7583159_7583160del , CM000668.1:g.7583159_7583160del GRCh37
NC_000006.10:g.7528158_7528159del NCBI36
NG_008803.1:g.46290_46291del , LRG_423:g.46290_46291del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4335_4336del ENSP00000518230.1:p.Ser1445ArgfsTer8
ENST00000379802.8:c.5664_5665del MANE Select ENSP00000369129.3:p.Ser1888ArgfsTer8
ENST00000379802.7:c.5664_5665del ENSP00000369129.3:p.Ser1888ArgfsTer8
ENST00000418664.2:c.3867_3868del ENSP00000396591.2:p.Ser1289ArgfsTer8
NM_001008844.1:c.3867_3868del NP_001008844.1:p.Ser1289ArgfsTer8
NM_004415.2:c.5664_5665del , LRG_423t1:c.5664_5665del NP_004406.2:p.Ser1888ArgfsTer8
XM_011514323.1:c.4335_4336del XP_011512625.1:p.Ser1445ArgfsTer8
NM_001008844.2:c.3867_3868del NP_001008844.1:p.Ser1289ArgfsTer8
NM_001319034.1:c.4335_4336del NP_001305963.1:p.Ser1445ArgfsTer8
NM_004415.3:c.5664_5665del NP_004406.2:p.Ser1888ArgfsTer8
NM_004415.4:c.5664_5665del MANE Select NP_004406.2:p.Ser1888ArgfsTer8
NM_001008844.3:c.3867_3868del NP_001008844.1:p.Ser1289ArgfsTer8
NM_001319034.2:c.4335_4336del NP_001305963.1:p.Ser1445ArgfsTer8