Canonical Allele Identifier: CA2580075355

Gene: DSP

Linked Data

• ClinVar Variation Id: 2024439
• ClinVar RCV Id: RCV002863320

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584516dup , CM000668.2:g.7584516dup	GRCh38
NC_000006.11:g.7584749dup , CM000668.1:g.7584749dup	GRCh37
NC_000006.10:g.7529748dup	NCBI36
NG_008803.1:g.47880dup , LRG_423:g.47880dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.5925dup	ENSP00000518230.1:p.Asn1976GlnfsTer3
ENST00000379802.8:c.7254dup MANE Select	ENSP00000369129.3:p.Asn2419GlnfsTer3
ENST00000379802.7:c.7254dup	ENSP00000369129.3:p.Asn2419GlnfsTer3
ENST00000418664.2:c.5457dup	ENSP00000396591.2:p.Asn1820GlnfsTer3
NM_001008844.1:c.5457dup	NP_001008844.1:p.Asn1820GlnfsTer3
NM_004415.2:c.7254dup , LRG_423t1:c.7254dup	NP_004406.2:p.Asn2419GlnfsTer3
XM_011514323.1:c.5925dup	XP_011512625.1:p.Asn1976GlnfsTer3
NM_001008844.2:c.5457dup	NP_001008844.1:p.Asn1820GlnfsTer3
NM_001319034.1:c.5925dup	NP_001305963.1:p.Asn1976GlnfsTer3
NM_004415.3:c.7254dup	NP_004406.2:p.Asn2419GlnfsTer3
NM_004415.4:c.7254dup MANE Select	NP_004406.2:p.Asn2419GlnfsTer3
NM_001008844.3:c.5457dup	NP_001008844.1:p.Asn1820GlnfsTer3
NM_001319034.2:c.5925dup	NP_001305963.1:p.Asn1976GlnfsTer3