Canonical Allele Identifier: CA2499218566

Gene: DSP

Linked Data

• ClinVar Variation Id: 1075974
• ClinVar RCV Id: RCV001389705
• dbSNP Id: rs2113703361

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585082del , CM000668.2:g.7585082del	GRCh38
NC_000006.11:g.7585315del , CM000668.1:g.7585315del	GRCh37
NC_000006.10:g.7530314del	NCBI36
NG_008803.1:g.48446del , LRG_423:g.48446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6491del	ENSP00000518230.1:p.Ser2164ThrfsTer?
ENST00000379802.8:c.7820del MANE Select	ENSP00000369129.3:p.Ser2607ThrfsTer?
ENST00000379802.7:c.7820del	ENSP00000369129.3:p.Ser2607ThrfsTer?
ENST00000418664.2:c.6023del	ENSP00000396591.2:p.Ser2008ThrfsTer?
NM_001008844.1:c.6023del	NP_001008844.1:p.Ser2008ThrfsTer?
NM_004415.2:c.7820del , LRG_423t1:c.7820del	NP_004406.2:p.Ser2607ThrfsTer?
XM_011514323.1:c.6491del	XP_011512625.1:p.Ser2164ThrfsTer?
NM_001008844.2:c.6023del	NP_001008844.1:p.Ser2008ThrfsTer?
NM_001319034.1:c.6491del	NP_001305963.1:p.Ser2164ThrfsTer?
NM_004415.3:c.7820del	NP_004406.2:p.Ser2607ThrfsTer?
NM_004415.4:c.7820del MANE Select	NP_004406.2:p.Ser2607ThrfsTer?
NM_001008844.3:c.6023del	NP_001008844.1:p.Ser2008ThrfsTer?
NM_001319034.2:c.6491del	NP_001305963.1:p.Ser2164ThrfsTer?