Canonical Allele Identifier: CA2769903918
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585018_7585019insAACACCAACCAAACACACCCAA , CM000668.2:g.7585018_7585019insAACACCAACCAAACACACCCAA GRCh38
NC_000006.11:g.7585251_7585252insAACACCAACCAAACACACCCAA , CM000668.1:g.7585251_7585252insAACACCAACCAAACACACCCAA GRCh37
NC_000006.10:g.7530250_7530251insAACACCAACCAAACACACCCAA NCBI36
NG_008803.1:g.48382_48383insAACACCAACCAAACACACCCAA , LRG_423:g.48382_48383insAACACCAACCAAACACACCCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6427_6428insAACACCAACCAAACACACCCAA ENSP00000518230.1:p.Arg2143GlnfsTer10
ENST00000379802.8:c.7756_7757insAACACCAACCAAACACACCCAA MANE Select ENSP00000369129.3:p.Arg2586GlnfsTer10
ENST00000379802.7:c.7756_7757insAACACCAACCAAACACACCCAA ENSP00000369129.3:p.Arg2586GlnfsTer10
ENST00000418664.2:c.5959_5960insAACACCAACCAAACACACCCAA ENSP00000396591.2:p.Arg1987GlnfsTer10
NM_001008844.1:c.5959_5960insAACACCAACCAAACACACCCAA NP_001008844.1:p.Arg1987GlnfsTer10
NM_004415.2:c.7756_7757insAACACCAACCAAACACACCCAA , LRG_423t1:c.7756_7757insAACACCAACCAAACACACCCAA NP_004406.2:p.Arg2586GlnfsTer10
XM_011514323.1:c.6427_6428insAACACCAACCAAACACACCCAA XP_011512625.1:p.Arg2143GlnfsTer10
NM_001008844.2:c.5959_5960insAACACCAACCAAACACACCCAA NP_001008844.1:p.Arg1987GlnfsTer10
NM_001319034.1:c.6427_6428insAACACCAACCAAACACACCCAA NP_001305963.1:p.Arg2143GlnfsTer10
NM_004415.3:c.7756_7757insAACACCAACCAAACACACCCAA NP_004406.2:p.Arg2586GlnfsTer10
NM_004415.4:c.7756_7757insAACACCAACCAAACACACCCAA MANE Select NP_004406.2:p.Arg2586GlnfsTer10
NM_001008844.3:c.5959_5960insAACACCAACCAAACACACCCAA NP_001008844.1:p.Arg1987GlnfsTer10
NM_001319034.2:c.6427_6428insAACACCAACCAAACACACCCAA NP_001305963.1:p.Arg2143GlnfsTer10