Canonical Allele Identifier: CA2695205963
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584510dup , CM000668.2:g.7584510dup GRCh38
NC_000006.11:g.7584743dup , CM000668.1:g.7584743dup GRCh37
NC_000006.10:g.7529742dup NCBI36
NG_008803.1:g.47874dup , LRG_423:g.47874dup

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.5919dup ENSP00000518230.1:p.Asp1974Ter
ENST00000379802.8:c.7248dup MANE Select ENSP00000369129.3:p.Asp2417Ter
ENST00000379802.7:c.7248dup ENSP00000369129.3:p.Asp2417Ter
ENST00000418664.2:c.5451dup ENSP00000396591.2:p.Asp1818Ter
NM_001008844.1:c.5451dup NP_001008844.1:p.Asp1818Ter
NM_004415.2:c.7248dup , LRG_423t1:c.7248dup NP_004406.2:p.Asp2417Ter
XM_011514323.1:c.5919dup XP_011512625.1:p.Asp1974Ter
NM_001008844.2:c.5451dup NP_001008844.1:p.Asp1818Ter
NM_001319034.1:c.5919dup NP_001305963.1:p.Asp1974Ter
NM_004415.3:c.7248dup NP_004406.2:p.Asp2417Ter
NM_004415.4:c.7248dup MANE Select NP_004406.2:p.Asp2417Ter
NM_001008844.3:c.5451dup NP_001008844.1:p.Asp1818Ter
NM_001319034.2:c.5919dup NP_001305963.1:p.Asp1974Ter