Canonical Allele Identifier: CA2740094268

Gene: DSP

Linked Data

• ClinVar Variation Id: 2941140
• ClinVar RCV Id: RCV003792402

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585652del , CM000668.2:g.7585652del	GRCh38
NC_000006.11:g.7585885del , CM000668.1:g.7585885del	GRCh37
NC_000006.10:g.7530884del	NCBI36
NG_008803.1:g.49016del , LRG_423:g.49016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7061del	ENSP00000518230.1:p.Ile2354ThrfsTer?
ENST00000379802.8:c.8390del MANE Select	ENSP00000369129.3:p.Ile2797ThrfsTer?
ENST00000379802.7:c.8390del	ENSP00000369129.3:p.Ile2797ThrfsTer?
ENST00000418664.2:c.6593del	ENSP00000396591.2:p.Ile2198ThrfsTer?
NM_001008844.1:c.6593del	NP_001008844.1:p.Ile2198ThrfsTer?
NM_004415.2:c.8390del , LRG_423t1:c.8390del	NP_004406.2:p.Ile2797ThrfsTer?
XM_011514323.1:c.7061del	XP_011512625.1:p.Ile2354ThrfsTer?
NM_001008844.2:c.6593del	NP_001008844.1:p.Ile2198ThrfsTer?
NM_001319034.1:c.7061del	NP_001305963.1:p.Ile2354ThrfsTer?
NM_004415.3:c.8390del	NP_004406.2:p.Ile2797ThrfsTer?
NM_004415.4:c.8390del MANE Select	NP_004406.2:p.Ile2797ThrfsTer?
NM_001008844.3:c.6593del	NP_001008844.1:p.Ile2198ThrfsTer?
NM_001319034.2:c.7061del	NP_001305963.1:p.Ile2354ThrfsTer?