Canonical Allele Identifier: CA891843182

Gene: DSP

Linked Data

• ClinVar Variation Id: 571455
• ClinVar RCV Id: RCV000692607
• dbSNP Id: rs1561703363
• MyVariant Identifiers: chr6:g.7584570del (hg19) ; chr6:g.7584337del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584337del , CM000668.2:g.7584337del	GRCh38
NC_000006.11:g.7584570del , CM000668.1:g.7584570del	GRCh37
NC_000006.10:g.7529569del	NCBI36
NG_008803.1:g.47701del , LRG_423:g.47701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.5746del	ENSP00000518230.1:p.Ile1916SerfsTer10
ENST00000379802.8:c.7075del MANE Select	ENSP00000369129.3:p.Ile2359SerfsTer10
ENST00000379802.7:c.7075del	ENSP00000369129.3:p.Ile2359SerfsTer10
ENST00000418664.2:c.5278del	ENSP00000396591.2:p.Ile1760SerfsTer10
NM_001008844.1:c.5278del	NP_001008844.1:p.Ile1760SerfsTer10
NM_004415.2:c.7075del , LRG_423t1:c.7075del	NP_004406.2:p.Ile2359SerfsTer10
XM_011514323.1:c.5746del	XP_011512625.1:p.Ile1916SerfsTer10
NM_001008844.2:c.5278del	NP_001008844.1:p.Ile1760SerfsTer10
NM_001319034.1:c.5746del	NP_001305963.1:p.Ile1916SerfsTer10
NM_004415.3:c.7075del	NP_004406.2:p.Ile2359SerfsTer10
NM_004415.4:c.7075del MANE Select	NP_004406.2:p.Ile2359SerfsTer10
NM_001008844.3:c.5278del	NP_001008844.1:p.Ile1760SerfsTer10
NM_001319034.2:c.5746del	NP_001305963.1:p.Ile1916SerfsTer10