Canonical Allele Identifier: CA2710966512
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs2113699387

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583305del , CM000668.2:g.7583305del GRCh38
NC_000006.11:g.7583538del , CM000668.1:g.7583538del GRCh37
NC_000006.10:g.7528537del NCBI36
NG_008803.1:g.46669del , LRG_423:g.46669del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4714del ENSP00000518230.1:p.Ala1572GlnfsTer18
ENST00000379802.8:c.6043del MANE Select ENSP00000369129.3:p.Ala2015GlnfsTer18
ENST00000379802.7:c.6043del ENSP00000369129.3:p.Ala2015GlnfsTer18
ENST00000418664.2:c.4246del ENSP00000396591.2:p.Ala1416GlnfsTer18
NM_001008844.1:c.4246del NP_001008844.1:p.Ala1416GlnfsTer18
NM_004415.2:c.6043del , LRG_423t1:c.6043del NP_004406.2:p.Ala2015GlnfsTer18
XM_011514323.1:c.4714del XP_011512625.1:p.Ala1572GlnfsTer18
NM_001008844.2:c.4246del NP_001008844.1:p.Ala1416GlnfsTer18
NM_001319034.1:c.4714del NP_001305963.1:p.Ala1572GlnfsTer18
NM_004415.3:c.6043del NP_004406.2:p.Ala2015GlnfsTer18
NM_004415.4:c.6043del MANE Select NP_004406.2:p.Ala2015GlnfsTer18
NM_001008844.3:c.4246del NP_001008844.1:p.Ala1416GlnfsTer18
NM_001319034.2:c.4714del NP_001305963.1:p.Ala1572GlnfsTer18