Canonical Allele Identifier: CA565358150

Gene: DSP

Linked Data

• gnomAD v2: 6-7583180-T-TCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA
• MyVariant Identifiers: chr6:g.7583180_7583181insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA (hg19) ; chr6:g.7582947_7582948insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7582947_7582948insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA , CM000668.2:g.7582947_7582948insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	GRCh38
NC_000006.11:g.7583180_7583181insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA , CM000668.1:g.7583180_7583181insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	GRCh37
NC_000006.10:g.7528179_7528180insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	NCBI36
NG_008803.1:g.46311_46312insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA , LRG_423:g.46311_46312insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4356_4357insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	ENSP00000518230.1:p.Arg1453LeufsTer5
ENST00000379802.8:c.5685_5686insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA MANE Select	ENSP00000369129.3:p.Arg1896LeufsTer5
ENST00000379802.7:c.5685_5686insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	ENSP00000369129.3:p.Arg1896LeufsTer5
ENST00000418664.2:c.3888_3889insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	ENSP00000396591.2:p.Arg1297LeufsTer5
NM_001008844.1:c.3888_3889insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	NP_001008844.1:p.Arg1297LeufsTer5
NM_004415.2:c.5685_5686insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA , LRG_423t1:c.5685_5686insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	NP_004406.2:p.Arg1896LeufsTer5
XM_011514323.1:c.4356_4357insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	XP_011512625.1:p.Arg1453LeufsTer5
NM_001008844.2:c.3888_3889insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	NP_001008844.1:p.Arg1297LeufsTer5
NM_001319034.1:c.4356_4357insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	NP_001305963.1:p.Arg1453LeufsTer5
NM_004415.3:c.5685_5686insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	NP_004406.2:p.Arg1896LeufsTer5
NM_004415.4:c.5685_5686insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA MANE Select	NP_004406.2:p.Arg1896LeufsTer5
NM_001008844.3:c.3888_3889insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	NP_001008844.1:p.Arg1297LeufsTer5
NM_001319034.2:c.4356_4357insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA	NP_001305963.1:p.Arg1453LeufsTer5