Canonical Allele Identifier: CA2573052740

Gene: DSP

Linked Data

• ClinVar Variation Id: 1329266
• ClinVar RCV Id: RCV001799309
• dbSNP Id: rs2113701305

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584198_7584219del , CM000668.2:g.7584198_7584219del	GRCh38
NC_000006.11:g.7584431_7584452del , CM000668.1:g.7584431_7584452del	GRCh37
NC_000006.10:g.7529430_7529451del	NCBI36
NG_008803.1:g.47562_47583del , LRG_423:g.47562_47583del

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.5607_5628del	ENSP00000518230.1:p.Glu1870TrpfsTer?
ENST00000379802.8:c.6936_6957del MANE Select	ENSP00000369129.3:p.Glu2313TrpfsTer?
ENST00000379802.7:c.6936_6957del	ENSP00000369129.3:p.Glu2313TrpfsTer?
ENST00000418664.2:c.5139_5160del	ENSP00000396591.2:p.Glu1714TrpfsTer?
NM_001008844.1:c.5139_5160del	NP_001008844.1:p.Glu1714TrpfsTer?
NM_004415.2:c.6936_6957del , LRG_423t1:c.6936_6957del	NP_004406.2:p.Glu2313TrpfsTer?
XM_011514323.1:c.5607_5628del	XP_011512625.1:p.Glu1870TrpfsTer?
NM_001008844.2:c.5139_5160del	NP_001008844.1:p.Glu1714TrpfsTer?
NM_001319034.1:c.5607_5628del	NP_001305963.1:p.Glu1870TrpfsTer?
NM_004415.3:c.6936_6957del	NP_004406.2:p.Glu2313TrpfsTer?
NM_004415.4:c.6936_6957del MANE Select	NP_004406.2:p.Glu2313TrpfsTer?
NM_001008844.3:c.5139_5160del	NP_001008844.1:p.Glu1714TrpfsTer?
NM_001319034.2:c.5607_5628del	NP_001305963.1:p.Glu1870TrpfsTer?