Canonical Allele Identifier: CA1608615030
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1759635633

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585597del , CM000668.2:g.7585597del GRCh38
NC_000006.11:g.7585830del , CM000668.1:g.7585830del GRCh37
NC_000006.10:g.7530829del NCBI36
NG_008803.1:g.48961del , LRG_423:g.48961del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.7006del ENSP00000518230.1:p.Thr2336ProfsTer3
ENST00000379802.8:c.8335del MANE Select ENSP00000369129.3:p.Thr2779ProfsTer3
ENST00000379802.7:c.8335del ENSP00000369129.3:p.Thr2779ProfsTer3
ENST00000418664.2:c.6538del ENSP00000396591.2:p.Thr2180ProfsTer3
NM_001008844.1:c.6538del NP_001008844.1:p.Thr2180ProfsTer3
NM_004415.2:c.8335del , LRG_423t1:c.8335del NP_004406.2:p.Thr2779ProfsTer3
XM_011514323.1:c.7006del XP_011512625.1:p.Thr2336ProfsTer3
NM_001008844.2:c.6538del NP_001008844.1:p.Thr2180ProfsTer3
NM_001319034.1:c.7006del NP_001305963.1:p.Thr2336ProfsTer3
NM_004415.3:c.8335del NP_004406.2:p.Thr2779ProfsTer3
NM_004415.4:c.8335del MANE Select NP_004406.2:p.Thr2779ProfsTer3
NM_001008844.3:c.6538del NP_001008844.1:p.Thr2180ProfsTer3
NM_001319034.2:c.7006del NP_001305963.1:p.Thr2336ProfsTer3