Canonical Allele Identifier: CA2695206011
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7580121del , CM000668.2:g.7580121del GRCh38
NC_000006.11:g.7580354del , CM000668.1:g.7580354del GRCh37
NC_000006.10:g.7525353del NCBI36
NG_008803.1:g.43485del , LRG_423:g.43485del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3931del ENSP00000518230.1:p.Gln1311SerfsTer?
ENST00000379802.8:c.3931del MANE Select ENSP00000369129.3:p.Gln1311SerfsTer?
ENST00000379802.7:c.3931del ENSP00000369129.3:p.Gln1311SerfsTer?
ENST00000418664.2:c.3582+349del ENSP00000396591.2:n.3582+349del
NM_001008844.1:c.3582+349del NP_001008844.1:n.3582+349del
NM_004415.2:c.3931del , LRG_423t1:c.3931del NP_004406.2:p.Gln1311SerfsTer?
XM_011514323.1:c.3931del XP_011512625.1:p.Gln1311SerfsTer?
NM_001008844.2:c.3582+349del NP_001008844.1:n.3582+349del
NM_001319034.1:c.3931del NP_001305963.1:p.Gln1311SerfsTer?
NM_004415.3:c.3931del NP_004406.2:p.Gln1311SerfsTer?
NM_004415.4:c.3931del MANE Select NP_004406.2:p.Gln1311SerfsTer?
NM_001008844.3:c.3582+349del NP_001008844.1:n.3582+349del
NM_001319034.2:c.3931del NP_001305963.1:p.Gln1311SerfsTer?