Canonical Allele Identifier: CA2677219518
Gene: DSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584407_7584423del , CM000668.2:g.7584407_7584423del GRCh38
NC_000006.11:g.7584640_7584656del , CM000668.1:g.7584640_7584656del GRCh37
NC_000006.10:g.7529639_7529655del NCBI36
NG_008803.1:g.47771_47787del , LRG_423:g.47771_47787del

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.5816_5832del ENSP00000518230.1:p.Glu1939GlyfsTer2
ENST00000379802.8:c.7145_7161del MANE Select ENSP00000369129.3:p.Glu2382GlyfsTer2
ENST00000379802.7:c.7145_7161del ENSP00000369129.3:p.Glu2382GlyfsTer2
ENST00000418664.2:c.5348_5364del ENSP00000396591.2:p.Glu1783GlyfsTer2
NM_001008844.1:c.5348_5364del NP_001008844.1:p.Glu1783GlyfsTer2
NM_004415.2:c.7145_7161del , LRG_423t1:c.7145_7161del NP_004406.2:p.Glu2382GlyfsTer2
XM_011514323.1:c.5816_5832del XP_011512625.1:p.Glu1939GlyfsTer2
NM_001008844.2:c.5348_5364del NP_001008844.1:p.Glu1783GlyfsTer2
NM_001319034.1:c.5816_5832del NP_001305963.1:p.Glu1939GlyfsTer2
NM_004415.3:c.7145_7161del NP_004406.2:p.Glu2382GlyfsTer2
NM_004415.4:c.7145_7161del MANE Select NP_004406.2:p.Glu2382GlyfsTer2
NM_001008844.3:c.5348_5364del NP_001008844.1:p.Glu1783GlyfsTer2
NM_001319034.2:c.5816_5832del NP_001305963.1:p.Glu1939GlyfsTer2