Canonical Allele Identifier: CA007739

Gene: DSP

Linked Data

• ClinVar Variation Id: 179504
• ClinVar RCV Id: RCV000156294 ; RCV003998308
• dbSNP Id: rs727504909
• MyVariant Identifiers: chr6:g.7586071_7586072del (hg19) ; chr6:g.7585838_7585839del (hg38)
• PubMed: PMID:15807686 ; PMID:16175511 ; PMID:23137101

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585838_7585839del , CM000668.2:g.7585838_7585839del	GRCh38
NC_000006.11:g.7586071_7586072del , CM000668.1:g.7586071_7586072del	GRCh37
NC_000006.10:g.7531070_7531071del	NCBI36
NG_008803.1:g.49202_49203del , LRG_423:g.49202_49203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7247_7248del	ENSP00000518230.1:p.Ser2416LeufsTer6
ENST00000379802.8:c.8576_8577del MANE Select	ENSP00000369129.3:p.Ser2859LeufsTer6
ENST00000379802.7:c.8576_8577del	ENSP00000369129.3:p.Ser2859LeufsTer6
ENST00000418664.2:c.6779_6780del	ENSP00000396591.2:p.Ser2260LeufsTer6
NM_001008844.1:c.6779_6780del	NP_001008844.1:p.Ser2260LeufsTer6
NM_004415.2:c.8576_8577del , LRG_423t1:c.8576_8577del	NP_004406.2:p.Ser2859LeufsTer6
XM_011514323.1:c.7247_7248del	XP_011512625.1:p.Ser2416LeufsTer6
NM_001008844.2:c.6779_6780del	NP_001008844.1:p.Ser2260LeufsTer6
NM_001319034.1:c.7247_7248del	NP_001305963.1:p.Ser2416LeufsTer6
NM_004415.3:c.8576_8577del	NP_004406.2:p.Ser2859LeufsTer6
NM_004415.4:c.8576_8577del MANE Select	NP_004406.2:p.Ser2859LeufsTer6
NM_001008844.3:c.6779_6780del	NP_001008844.1:p.Ser2260LeufsTer6
NM_001319034.2:c.7247_7248del	NP_001305963.1:p.Ser2416LeufsTer6