Canonical Allele Identifier: CA658820636

Gene: DSP

Linked Data

• ClinVar Variation Id: 1184590
• ClinVar RCV Id: RCV001542754 ; RCV001882613
• dbSNP Id: rs1758828554

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565399dup , CM000668.2:g.7565399dup	GRCh38
NC_000006.11:g.7565632dup , CM000668.1:g.7565632dup	GRCh37
NC_000006.10:g.7510631dup	NCBI36
NG_008803.1:g.28763dup , LRG_423:g.28763dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.818dup	ENSP00000518230.1:p.Asn274GlufsTer15
ENST00000682228.1:n.142dup
ENST00000379802.8:c.818dup MANE Select	ENSP00000369129.3:p.Asn274GlufsTer15
ENST00000379802.7:c.818dup	ENSP00000369129.3:p.Asn274GlufsTer15
ENST00000418664.2:c.818dup	ENSP00000396591.2:p.Asn274GlufsTer15
ENST00000506617.1:n.336dup
NM_001008844.1:c.818dup	NP_001008844.1:p.Asn274GlufsTer15
NM_004415.2:c.818dup , LRG_423t1:c.818dup	NP_004406.2:p.Asn274GlufsTer15
XM_011514323.1:c.818dup	XP_011512625.1:p.Asn274GlufsTer15
NM_001008844.2:c.818dup	NP_001008844.1:p.Asn274GlufsTer15
NM_001319034.1:c.818dup	NP_001305963.1:p.Asn274GlufsTer15
NM_004415.3:c.818dup	NP_004406.2:p.Asn274GlufsTer15
NM_004415.4:c.818dup MANE Select	NP_004406.2:p.Asn274GlufsTer15
NM_001008844.3:c.818dup	NP_001008844.1:p.Asn274GlufsTer15
NM_001319034.2:c.818dup	NP_001305963.1:p.Asn274GlufsTer15