Canonical Allele Identifier: CA828077383
Gene: DSP HGNC NCBI

Linked Data

dbSNP Id: rs1183927346

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7579679dup , CM000668.2:g.7579679dup GRCh38
NC_000006.11:g.7579912dup , CM000668.1:g.7579912dup GRCh37
NC_000006.10:g.7524911dup NCBI36
NG_008803.1:g.43043dup , LRG_423:g.43043dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3489dup ENSP00000518230.1:p.Ile1164HisfsTer9
ENST00000379802.8:c.3489dup MANE Select ENSP00000369129.3:p.Ile1164HisfsTer9
ENST00000379802.7:c.3489dup ENSP00000369129.3:p.Ile1164HisfsTer9
ENST00000418664.2:c.3489dup ENSP00000396591.2:p.Ile1164HisfsTer9
NM_001008844.1:c.3489dup NP_001008844.1:p.Ile1164HisfsTer9
NM_004415.2:c.3489dup , LRG_423t1:c.3489dup NP_004406.2:p.Ile1164HisfsTer9
XM_011514323.1:c.3489dup XP_011512625.1:p.Ile1164HisfsTer9
NM_001008844.2:c.3489dup NP_001008844.1:p.Ile1164HisfsTer9
NM_001319034.1:c.3489dup NP_001305963.1:p.Ile1164HisfsTer9
NM_004415.3:c.3489dup NP_004406.2:p.Ile1164HisfsTer9
NM_004415.4:c.3489dup MANE Select NP_004406.2:p.Ile1164HisfsTer9
NM_001008844.3:c.3489dup NP_001008844.1:p.Ile1164HisfsTer9
NM_001319034.2:c.3489dup NP_001305963.1:p.Ile1164HisfsTer9