Canonical Allele Identifier: CA2580075410

Gene: DSP

Linked Data

• ClinVar Variation Id: 1809749
• ClinVar RCV Id: RCV002505964

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7580114_7580115del , CM000668.2:g.7580114_7580115del	GRCh38
NC_000006.11:g.7580347_7580348del , CM000668.1:g.7580347_7580348del	GRCh37
NC_000006.10:g.7525346_7525347del	NCBI36
NG_008803.1:g.43478_43479del , LRG_423:g.43478_43479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3924_3925del	ENSP00000518230.1:p.His1309GlnfsTer16
ENST00000379802.8:c.3924_3925del MANE Select	ENSP00000369129.3:p.His1309GlnfsTer16
ENST00000379802.7:c.3924_3925del	ENSP00000369129.3:p.His1309GlnfsTer16
ENST00000418664.2:c.3582+342_3582+343del	ENSP00000396591.2:n.3582+342_3582+343del
NM_001008844.1:c.3582+342_3582+343del	NP_001008844.1:n.3582+342_3582+343del
NM_004415.2:c.3924_3925del , LRG_423t1:c.3924_3925del	NP_004406.2:p.His1309GlnfsTer16
XM_011514323.1:c.3924_3925del	XP_011512625.1:p.His1309GlnfsTer16
NM_001008844.2:c.3582+342_3582+343del	NP_001008844.1:n.3582+342_3582+343del
NM_001319034.1:c.3924_3925del	NP_001305963.1:p.His1309GlnfsTer16
NM_004415.3:c.3924_3925del	NP_004406.2:p.His1309GlnfsTer16
NM_004415.4:c.3924_3925del MANE Select	NP_004406.2:p.His1309GlnfsTer16
NM_001008844.3:c.3582+342_3582+343del	NP_001008844.1:n.3582+342_3582+343del
NM_001319034.2:c.3924_3925del	NP_001305963.1:p.His1309GlnfsTer16