Canonical Allele Identifier: CA006713
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 16844
dbSNP Id: rs397514040

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7583353_7583354del , CM000668.2:g.7583353_7583354del GRCh38
NC_000006.11:g.7583586_7583587del , CM000668.1:g.7583586_7583587del GRCh37
NC_000006.10:g.7528585_7528586del NCBI36
NG_008803.1:g.46717_46718del , LRG_423:g.46717_46718del

Transcript Alleles

HGVS Amino-acid change
ENST00000379802.8:c.6091_6092del MANE Select ENSP00000369129.3:p.Leu2031GlyfsTer29
ENST00000379802.7:c.6091_6092del ENSP00000369129.3:p.Leu2031GlyfsTer29
ENST00000418664.2:c.4294_4295del ENSP00000396591.2:p.Leu1432GlyfsTer29
NM_001008844.1:c.4294_4295del NP_001008844.1:p.Leu1432GlyfsTer29
NM_004415.2:c.6091_6092del , LRG_423t1:c.6091_6092del NP_004406.2:p.Leu2031GlyfsTer29
XM_011514323.1:c.4762_4763del XP_011512625.1:p.Leu1588GlyfsTer29
NM_001008844.2:c.4294_4295del NP_001008844.1:p.Leu1432GlyfsTer29
NM_001319034.1:c.4762_4763del NP_001305963.1:p.Leu1588GlyfsTer29
NM_004415.3:c.6091_6092del NP_004406.2:p.Leu2031GlyfsTer29
NM_004415.4:c.6091_6092del MANE Select NP_004406.2:p.Leu2031GlyfsTer29
NM_001008844.3:c.4294_4295del NP_001008844.1:p.Leu1432GlyfsTer29
NM_001319034.2:c.4762_4763del NP_001305963.1:p.Leu1588GlyfsTer29