Canonical Allele Identifier: CA2573140800

Gene: DSP

Linked Data

• ClinVar Variation Id: 1451256
• ClinVar RCV Id: RCV002007167
• dbSNP Id: rs2113692562

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579947del , CM000668.2:g.7579947del	GRCh38
NC_000006.11:g.7580180del , CM000668.1:g.7580180del	GRCh37
NC_000006.10:g.7525179del	NCBI36
NG_008803.1:g.43311del , LRG_423:g.43311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3757del	ENSP00000518230.1:p.Ile1253LeufsTer?
ENST00000379802.8:c.3757del MANE Select	ENSP00000369129.3:p.Ile1253LeufsTer?
ENST00000379802.7:c.3757del	ENSP00000369129.3:p.Ile1253LeufsTer?
ENST00000418664.2:c.3582+175del	ENSP00000396591.2:n.3582+175del
NM_001008844.1:c.3582+175del	NP_001008844.1:n.3582+175del
NM_004415.2:c.3757del , LRG_423t1:c.3757del	NP_004406.2:p.Ile1253LeufsTer?
XM_011514323.1:c.3757del	XP_011512625.1:p.Ile1253LeufsTer?
NM_001008844.2:c.3582+175del	NP_001008844.1:n.3582+175del
NM_001319034.1:c.3757del	NP_001305963.1:p.Ile1253LeufsTer?
NM_004415.3:c.3757del	NP_004406.2:p.Ile1253LeufsTer?
NM_004415.4:c.3757del MANE Select	NP_004406.2:p.Ile1253LeufsTer?
NM_001008844.3:c.3582+175del	NP_001008844.1:n.3582+175del
NM_001319034.2:c.3757del	NP_001305963.1:p.Ile1253LeufsTer?