Canonical Allele Identifier: CA2695205997
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7567377dup , CM000668.2:g.7567377dup GRCh38
NC_000006.11:g.7567610dup , CM000668.1:g.7567610dup GRCh37
NC_000006.10:g.7512609dup NCBI36
NG_008803.1:g.30741dup , LRG_423:g.30741dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.1068dup ENSP00000518230.1:p.Gln357AlafsTer13
ENST00000682228.1:n.392dup
ENST00000379802.8:c.1068dup MANE Select ENSP00000369129.3:p.Gln357AlafsTer13
ENST00000379802.7:c.1068dup ENSP00000369129.3:p.Gln357AlafsTer13
ENST00000418664.2:c.1068dup ENSP00000396591.2:p.Gln357AlafsTer13
NM_001008844.1:c.1068dup NP_001008844.1:p.Gln357AlafsTer13
NM_004415.2:c.1068dup , LRG_423t1:c.1068dup NP_004406.2:p.Gln357AlafsTer13
XM_011514323.1:c.1068dup XP_011512625.1:p.Gln357AlafsTer13
NM_001008844.2:c.1068dup NP_001008844.1:p.Gln357AlafsTer13
NM_001319034.1:c.1068dup NP_001305963.1:p.Gln357AlafsTer13
NM_004415.3:c.1068dup NP_004406.2:p.Gln357AlafsTer13
NM_004415.4:c.1068dup MANE Select NP_004406.2:p.Gln357AlafsTer13
NM_001008844.3:c.1068dup NP_001008844.1:p.Gln357AlafsTer13
NM_001319034.2:c.1068dup NP_001305963.1:p.Gln357AlafsTer13