Canonical Allele Identifier: CA16618323
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 420657
ClinVar RCV Id: RCV000478280 RCV001241384
dbSNP Id: rs1064794616
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7579605_7579607delinsG , CM000668.2:g.7579605_7579607delinsG GRCh38
NC_000006.11:g.7579838_7579840delinsG , CM000668.1:g.7579838_7579840delinsG GRCh37
NC_000006.10:g.7524837_7524839delinsG NCBI36
NG_008803.1:g.42969_42971delinsG , LRG_423:g.42969_42971delinsG

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.3415_3417delinsG ENSP00000518230.1:p.Tyr1139GlyfsTer10
ENST00000379802.8:c.3415_3417delinsG MANE Select ENSP00000369129.3:p.Tyr1139GlyfsTer10
ENST00000379802.7:c.3415_3417delinsG ENSP00000369129.3:p.Tyr1139GlyfsTer10
ENST00000418664.2:c.3415_3417delinsG ENSP00000396591.2:p.Tyr1139GlyfsTer10
NM_001008844.1:c.3415_3417delinsG NP_001008844.1:p.Tyr1139GlyfsTer10
NM_004415.2:c.3415_3417delinsG , LRG_423t1:c.3415_3417delinsG NP_004406.2:p.Tyr1139GlyfsTer10
XM_011514323.1:c.3415_3417delinsG XP_011512625.1:p.Tyr1139GlyfsTer10
NM_001008844.2:c.3415_3417delinsG NP_001008844.1:p.Tyr1139GlyfsTer10
NM_001319034.1:c.3415_3417delinsG NP_001305963.1:p.Tyr1139GlyfsTer10
NM_004415.3:c.3415_3417delinsG NP_004406.2:p.Tyr1139GlyfsTer10
NM_004415.4:c.3415_3417delinsG MANE Select NP_004406.2:p.Tyr1139GlyfsTer10
NM_001008844.3:c.3415_3417delinsG NP_001008844.1:p.Tyr1139GlyfsTer10
NM_001319034.2:c.3415_3417delinsG NP_001305963.1:p.Tyr1139GlyfsTer10
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