Canonical Allele Identifier: CA2695206020
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585643_7585646dup , CM000668.2:g.7585643_7585646dup GRCh38
NC_000006.11:g.7585876_7585879dup , CM000668.1:g.7585876_7585879dup GRCh37
NC_000006.10:g.7530875_7530878dup NCBI36
NG_008803.1:g.49007_49010dup , LRG_423:g.49007_49010dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.7052_7055dup ENSP00000518230.1:p.Glu2352AspfsTer?
ENST00000379802.8:c.8381_8384dup MANE Select ENSP00000369129.3:p.Glu2795AspfsTer?
ENST00000379802.7:c.8381_8384dup ENSP00000369129.3:p.Glu2795AspfsTer?
ENST00000418664.2:c.6584_6587dup ENSP00000396591.2:p.Glu2196AspfsTer?
NM_001008844.1:c.6584_6587dup NP_001008844.1:p.Glu2196AspfsTer?
NM_004415.2:c.8381_8384dup , LRG_423t1:c.8381_8384dup NP_004406.2:p.Glu2795AspfsTer?
XM_011514323.1:c.7052_7055dup XP_011512625.1:p.Glu2352AspfsTer?
NM_001008844.2:c.6584_6587dup NP_001008844.1:p.Glu2196AspfsTer?
NM_001319034.1:c.7052_7055dup NP_001305963.1:p.Glu2352AspfsTer?
NM_004415.3:c.8381_8384dup NP_004406.2:p.Glu2795AspfsTer?
NM_004415.4:c.8381_8384dup MANE Select NP_004406.2:p.Glu2795AspfsTer?
NM_001008844.3:c.6584_6587dup NP_001008844.1:p.Glu2196AspfsTer?
NM_001319034.2:c.7052_7055dup NP_001305963.1:p.Glu2352AspfsTer?