Canonical Allele Identifier: CA448715509
Gene: DSP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583002dup , CM000668.2:g.7583002dup GRCh38
NC_000006.11:g.7583235dup , CM000668.1:g.7583235dup GRCh37
NC_000006.10:g.7528234dup NCBI36
NG_008803.1:g.46366dup , LRG_423:g.46366dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4411dup ENSP00000518230.1:p.Arg1471LysfsTer3
ENST00000379802.8:c.5740dup MANE Select ENSP00000369129.3:p.Arg1914LysfsTer3
ENST00000379802.7:c.5740dup ENSP00000369129.3:p.Arg1914LysfsTer3
ENST00000418664.2:c.3943dup ENSP00000396591.2:p.Arg1315LysfsTer3
NM_001008844.1:c.3943dup NP_001008844.1:p.Arg1315LysfsTer3
NM_004415.2:c.5740dup , LRG_423t1:c.5740dup NP_004406.2:p.Arg1914LysfsTer3
XM_011514323.1:c.4411dup XP_011512625.1:p.Arg1471LysfsTer3
NM_001008844.2:c.3943dup NP_001008844.1:p.Arg1315LysfsTer3
NM_001319034.1:c.4411dup NP_001305963.1:p.Arg1471LysfsTer3
NM_004415.3:c.5740dup NP_004406.2:p.Arg1914LysfsTer3
NM_004415.4:c.5740dup MANE Select NP_004406.2:p.Arg1914LysfsTer3
NM_001008844.3:c.3943dup NP_001008844.1:p.Arg1315LysfsTer3
NM_001319034.2:c.4411dup NP_001305963.1:p.Arg1471LysfsTer3