Canonical Allele Identifier: CA16612041

Gene: DSP

Linked Data

• ClinVar Variation Id: 405223
• ClinVar RCV Id: RCV000466615 ; RCV001383704 ; RCV002348273
• dbSNP Id: rs1060500607
• gnomAD v2: 6-7583239-G-GT
• gnomAD v4: 6-7583006-G-GT
• MyVariant Identifiers: chr6:g.7583240dupT (hg19) ; chr6:g.7583239_7583240insT (hg19) ; chr6:g.7583007dupT (hg38) ; chr6:g.7583006_7583007insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583007dup , CM000668.2:g.7583007dup	GRCh38
NC_000006.11:g.7583240dup , CM000668.1:g.7583240dup	GRCh37
NC_000006.10:g.7528239dup	NCBI36
NG_008803.1:g.46371dup , LRG_423:g.46371dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4416dup	ENSP00000518230.1:p.Lys1473Ter
ENST00000379802.8:c.5745dup MANE Select	ENSP00000369129.3:p.Lys1916Ter
ENST00000379802.7:c.5745dup	ENSP00000369129.3:p.Lys1916Ter
ENST00000418664.2:c.3948dup	ENSP00000396591.2:p.Lys1317Ter
NM_001008844.1:c.3948dup	NP_001008844.1:p.Lys1317Ter
NM_004415.2:c.5745dup , LRG_423t1:c.5745dup	NP_004406.2:p.Lys1916Ter
XM_011514323.1:c.4416dup	XP_011512625.1:p.Lys1473Ter
NM_001008844.2:c.3948dup	NP_001008844.1:p.Lys1317Ter
NM_001319034.1:c.4416dup	NP_001305963.1:p.Lys1473Ter
NM_004415.3:c.5745dup	NP_004406.2:p.Lys1916Ter
NM_004415.4:c.5745dup MANE Select	NP_004406.2:p.Lys1916Ter
NM_001008844.3:c.3948dup	NP_001008844.1:p.Lys1317Ter
NM_001319034.2:c.4416dup	NP_001305963.1:p.Lys1473Ter