Canonical Allele Identifier: CA565358124

Gene: DSP

Linked Data

• dbSNP Id: rs1306859064
• gnomAD v2: 6-7579677-A-AGGCTGAGCTGGATGGGAAGTC
• gnomAD v3: 6-7579444-A-AGGCTGAGCTGGATGGGAAGTC
• gnomAD v4: 6-7579444-A-AGGCTGAGCTGGATGGGAAGTC
• MyVariant Identifiers: chr6:g.7579677_7579678insGGCTGAGCTGGATGGGAAGTC (hg19) ; chr6:g.7579444_7579445insGGCTGAGCTGGATGGGAAGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579449_7579469dup , CM000668.2:g.7579449_7579469dup	GRCh38
NC_000006.11:g.7579682_7579702dup , CM000668.1:g.7579682_7579702dup	GRCh37
NC_000006.10:g.7524681_7524701dup	NCBI36
NG_008803.1:g.42813_42833dup , LRG_423:g.42813_42833dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3259_3279dup	ENSP00000518230.1:p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla
ENST00000379802.8:c.3259_3279dup MANE Select	ENSP00000369129.3:p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla
ENST00000379802.7:c.3259_3279dup	ENSP00000369129.3:p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla
ENST00000418664.2:c.3259_3279dup	ENSP00000396591.2:p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla
NM_001008844.1:c.3259_3279dup	NP_001008844.1:p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla
NM_004415.2:c.3259_3279dup , LRG_423t1:c.3259_3279dup	NP_004406.2:p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla
XM_011514323.1:c.3259_3279dup	XP_011512625.1:p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla
NM_001008844.2:c.3259_3279dup	NP_001008844.1:p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla
NM_001319034.1:c.3259_3279dup	NP_001305963.1:p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla
NM_004415.3:c.3259_3279dup	NP_004406.2:p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla
NM_004415.4:c.3259_3279dup MANE Select	NP_004406.2:p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla
NM_001008844.3:c.3259_3279dup	NP_001008844.1:p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla
NM_001319034.2:c.3259_3279dup	NP_001305963.1:p.Ala1093_Lys1094insGluLeuAspGlyLysSerAla