Canonical Allele Identifier: CA1139659423

Gene: DSP

Linked Data

• ClinVar Variation Id: 923484
• ClinVar RCV Id: RCV001184193
• dbSNP Id: rs1759564374

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584526del , CM000668.2:g.7584526del	GRCh38
NC_000006.11:g.7584759del , CM000668.1:g.7584759del	GRCh37
NC_000006.10:g.7529758del	NCBI36
NG_008803.1:g.47890del , LRG_423:g.47890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.5935del	ENSP00000518230.1:p.Glu1979LysfsTer8
ENST00000379802.8:c.7264del MANE Select	ENSP00000369129.3:p.Glu2422LysfsTer8
ENST00000379802.7:c.7264del	ENSP00000369129.3:p.Glu2422LysfsTer8
ENST00000418664.2:c.5467del	ENSP00000396591.2:p.Glu1823LysfsTer8
NM_001008844.1:c.5467del	NP_001008844.1:p.Glu1823LysfsTer8
NM_004415.2:c.7264del , LRG_423t1:c.7264del	NP_004406.2:p.Glu2422LysfsTer8
XM_011514323.1:c.5935del	XP_011512625.1:p.Glu1979LysfsTer8
NM_001008844.2:c.5467del	NP_001008844.1:p.Glu1823LysfsTer8
NM_001319034.1:c.5935del	NP_001305963.1:p.Glu1979LysfsTer8
NM_004415.3:c.7264del	NP_004406.2:p.Glu2422LysfsTer8
NM_004415.4:c.7264del MANE Select	NP_004406.2:p.Glu2422LysfsTer8
NM_001008844.3:c.5467del	NP_001008844.1:p.Glu1823LysfsTer8
NM_001319034.2:c.5935del	NP_001305963.1:p.Glu1979LysfsTer8