Canonical Allele Identifier: CA2580075400

Gene: DSP

Linked Data

• ClinVar Variation Id: 1733909
• ClinVar RCV Id: RCV002346708

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579874del , CM000668.2:g.7579874del	GRCh38
NC_000006.11:g.7580107del , CM000668.1:g.7580107del	GRCh37
NC_000006.10:g.7525106del	NCBI36
NG_008803.1:g.43238del , LRG_423:g.43238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3684del	ENSP00000518230.1:p.Glu1229ArgfsTer21
ENST00000379802.8:c.3684del MANE Select	ENSP00000369129.3:p.Glu1229ArgfsTer21
ENST00000379802.7:c.3684del	ENSP00000369129.3:p.Glu1229ArgfsTer21
ENST00000418664.2:c.3582+102del	ENSP00000396591.2:n.3582+102del
NM_001008844.1:c.3582+102del	NP_001008844.1:n.3582+102del
NM_004415.2:c.3684del , LRG_423t1:c.3684del	NP_004406.2:p.Glu1229ArgfsTer21
XM_011514323.1:c.3684del	XP_011512625.1:p.Glu1229ArgfsTer21
NM_001008844.2:c.3582+102del	NP_001008844.1:n.3582+102del
NM_001319034.1:c.3684del	NP_001305963.1:p.Glu1229ArgfsTer21
NM_004415.3:c.3684del	NP_004406.2:p.Glu1229ArgfsTer21
NM_004415.4:c.3684del MANE Select	NP_004406.2:p.Glu1229ArgfsTer21
NM_001008844.3:c.3582+102del	NP_001008844.1:n.3582+102del
NM_001319034.2:c.3684del	NP_001305963.1:p.Glu1229ArgfsTer21