Canonical Allele Identifier: CA2573131738
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7579597del , CM000668.2:g.7579597del GRCh38
NC_000006.11:g.7579830del , CM000668.1:g.7579830del GRCh37
NC_000006.10:g.7524829del NCBI36
NG_008803.1:g.42961del , LRG_423:g.42961del

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3407del ENSP00000518230.1:p.Lys1136ArgfsTer23
ENST00000379802.8:c.3407del MANE Select ENSP00000369129.3:p.Lys1136ArgfsTer23
ENST00000379802.7:c.3407del ENSP00000369129.3:p.Lys1136ArgfsTer23
ENST00000418664.2:c.3407del ENSP00000396591.2:p.Lys1136ArgfsTer23
NM_001008844.1:c.3407del NP_001008844.1:p.Lys1136ArgfsTer23
NM_004415.2:c.3407del , LRG_423t1:c.3407del NP_004406.2:p.Lys1136ArgfsTer23
XM_011514323.1:c.3407del XP_011512625.1:p.Lys1136ArgfsTer23
NM_001008844.2:c.3407del NP_001008844.1:p.Lys1136ArgfsTer23
NM_001319034.1:c.3407del NP_001305963.1:p.Lys1136ArgfsTer23
NM_004415.3:c.3407del NP_004406.2:p.Lys1136ArgfsTer23
NM_004415.4:c.3407del MANE Select NP_004406.2:p.Lys1136ArgfsTer23
NM_001008844.3:c.3407del NP_001008844.1:p.Lys1136ArgfsTer23
NM_001319034.2:c.3407del NP_001305963.1:p.Lys1136ArgfsTer23