Canonical Allele Identifier: CA16618315
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 418788
dbSNP Id: rs1064793435

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7567363_7567368delinsCA , CM000668.2:g.7567363_7567368delinsCA GRCh38
NC_000006.11:g.7567596_7567601delinsCA , CM000668.1:g.7567596_7567601delinsCA GRCh37
NC_000006.10:g.7512595_7512600delinsCA NCBI36
NG_008803.1:g.30727_30732delinsCA , LRG_423:g.30727_30732delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.1054_1059delinsCA ENSP00000518230.1:p.Asp352HisfsTer20
ENST00000682228.1:n.378_383delinsCA
ENST00000379802.8:c.1054_1059delinsCA MANE Select ENSP00000369129.3:p.Asp352HisfsTer20
ENST00000379802.7:c.1054_1059delinsCA ENSP00000369129.3:p.Asp352HisfsTer20
ENST00000418664.2:c.1054_1059delinsCA ENSP00000396591.2:p.Asp352HisfsTer20
NM_001008844.1:c.1054_1059delinsCA NP_001008844.1:p.Asp352HisfsTer20
NM_004415.2:c.1054_1059delinsCA , LRG_423t1:c.1054_1059delinsCA NP_004406.2:p.Asp352HisfsTer20
XM_011514323.1:c.1054_1059delinsCA XP_011512625.1:p.Asp352HisfsTer20
NM_001008844.2:c.1054_1059delinsCA NP_001008844.1:p.Asp352HisfsTer20
NM_001319034.1:c.1054_1059delinsCA NP_001305963.1:p.Asp352HisfsTer20
NM_004415.3:c.1054_1059delinsCA NP_004406.2:p.Asp352HisfsTer20
NM_004415.4:c.1054_1059delinsCA MANE Select NP_004406.2:p.Asp352HisfsTer20
NM_001008844.3:c.1054_1059delinsCA NP_001008844.1:p.Asp352HisfsTer20
NM_001319034.2:c.1054_1059delinsCA NP_001305963.1:p.Asp352HisfsTer20