Canonical Allele Identifier: CA045527

Gene: DSP

Linked Data

• ClinVar Variation Id: 405232
• ClinVar RCV Id: RCV000458285 ; RCV000522863 ; RCV001525149 ; RCV002348274 ; RCV003330690 ; RCV004000643
• dbSNP Id: rs774763657
• ExAC: 6:7583173 ACAGT / A
• gnomAD v2: 6-7583173-ACAGT-A
• gnomAD v4: 6-7582940-ACAGT-A
• MyVariant Identifiers: chr6:g.7583175_7583178del (hg19) ; chr6:g.7583174_7583177del (hg19) ; chr6:g.7582942_7582945del (hg38) ; chr6:g.7582941_7582944del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7582942_7582945del , CM000668.2:g.7582942_7582945del	GRCh38
NC_000006.11:g.7583175_7583178del , CM000668.1:g.7583175_7583178del	GRCh37
NC_000006.10:g.7528174_7528177del	NCBI36
NG_008803.1:g.46306_46309del , LRG_423:g.46306_46309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4351_4354del	ENSP00000518230.1:p.Ser1451LeufsTer?
ENST00000379802.8:c.5680_5683del MANE Select	ENSP00000369129.3:p.Ser1894LeufsTer?
ENST00000379802.7:c.5680_5683del	ENSP00000369129.3:p.Ser1894LeufsTer?
ENST00000418664.2:c.3883_3886del	ENSP00000396591.2:p.Ser1295LeufsTer?
NM_001008844.1:c.3883_3886del	NP_001008844.1:p.Ser1295LeufsTer?
NM_004415.2:c.5680_5683del , LRG_423t1:c.5680_5683del	NP_004406.2:p.Ser1894LeufsTer?
XM_011514323.1:c.4351_4354del	XP_011512625.1:p.Ser1451LeufsTer?
NM_001008844.2:c.3883_3886del	NP_001008844.1:p.Ser1295LeufsTer?
NM_001319034.1:c.4351_4354del	NP_001305963.1:p.Ser1451LeufsTer?
NM_004415.3:c.5680_5683del	NP_004406.2:p.Ser1894LeufsTer?
NM_004415.4:c.5680_5683del MANE Select	NP_004406.2:p.Ser1894LeufsTer?
NM_001008844.3:c.3883_3886del	NP_001008844.1:p.Ser1295LeufsTer?
NM_001319034.2:c.4351_4354del	NP_001305963.1:p.Ser1451LeufsTer?