Canonical Allele Identifier: CA565358125

Gene: DSP

Linked Data

• ClinVar Variation Id: 857224
• ClinVar RCV Id: RCV001062857 ; RCV001280685 ; RCV001760031
• dbSNP Id: rs1561697838
• gnomAD v2: 6-7580107-A-AGAG
• gnomAD v4: 6-7579874-A-AGAG
• MyVariant Identifiers: chr6:g.7580107_7580108insGAG (hg19) ; chr6:g.7579874_7579875insGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579877_7579879dup , CM000668.2:g.7579877_7579879dup	GRCh38
NC_000006.11:g.7580110_7580112dup , CM000668.1:g.7580110_7580112dup	GRCh37
NC_000006.10:g.7525109_7525111dup	NCBI36
NG_008803.1:g.43241_43243dup , LRG_423:g.43241_43243dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3687_3689dup	ENSP00000518230.1:p.Glu1229_Asp1230insGlu
ENST00000379802.8:c.3687_3689dup MANE Select	ENSP00000369129.3:p.Glu1229_Asp1230insGlu
ENST00000379802.7:c.3687_3689dup	ENSP00000369129.3:p.Glu1229_Asp1230insGlu
ENST00000418664.2:c.3582+105_3582+107dup	ENSP00000396591.2:n.3582+105_3582+107dup
NM_001008844.1:c.3582+105_3582+107dup	NP_001008844.1:n.3582+105_3582+107dup
NM_004415.2:c.3687_3689dup , LRG_423t1:c.3687_3689dup	NP_004406.2:p.Glu1229_Asp1230insGlu
XM_011514323.1:c.3687_3689dup	XP_011512625.1:p.Glu1229_Asp1230insGlu
NM_001008844.2:c.3582+105_3582+107dup	NP_001008844.1:n.3582+105_3582+107dup
NM_001319034.1:c.3687_3689dup	NP_001305963.1:p.Glu1229_Asp1230insGlu
NM_004415.3:c.3687_3689dup	NP_004406.2:p.Glu1229_Asp1230insGlu
NM_004415.4:c.3687_3689dup MANE Select	NP_004406.2:p.Glu1229_Asp1230insGlu
NM_001008844.3:c.3582+105_3582+107dup	NP_001008844.1:n.3582+105_3582+107dup
NM_001319034.2:c.3687_3689dup	NP_001305963.1:p.Glu1229_Asp1230insGlu