Canonical Allele Identifier: CA2695206007
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7579690dup , CM000668.2:g.7579690dup GRCh38
NC_000006.11:g.7579923dup , CM000668.1:g.7579923dup GRCh37
NC_000006.10:g.7524922dup NCBI36
NG_008803.1:g.43054dup , LRG_423:g.43054dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3500dup ENSP00000518230.1:p.Glu1168GlyfsTer5
ENST00000379802.8:c.3500dup MANE Select ENSP00000369129.3:p.Glu1168GlyfsTer5
ENST00000379802.7:c.3500dup ENSP00000369129.3:p.Glu1168GlyfsTer5
ENST00000418664.2:c.3500dup ENSP00000396591.2:p.Glu1168GlyfsTer5
NM_001008844.1:c.3500dup NP_001008844.1:p.Glu1168GlyfsTer5
NM_004415.2:c.3500dup , LRG_423t1:c.3500dup NP_004406.2:p.Glu1168GlyfsTer5
XM_011514323.1:c.3500dup XP_011512625.1:p.Glu1168GlyfsTer5
NM_001008844.2:c.3500dup NP_001008844.1:p.Glu1168GlyfsTer5
NM_001319034.1:c.3500dup NP_001305963.1:p.Glu1168GlyfsTer5
NM_004415.3:c.3500dup NP_004406.2:p.Glu1168GlyfsTer5
NM_004415.4:c.3500dup MANE Select NP_004406.2:p.Glu1168GlyfsTer5
NM_001008844.3:c.3500dup NP_001008844.1:p.Glu1168GlyfsTer5
NM_001319034.2:c.3500dup NP_001305963.1:p.Glu1168GlyfsTer5