Canonical Allele Identifier: CA007248

Gene: DSP

Linked Data

• ClinVar Variation Id: 16837
• ClinVar RCV Id: RCV000018331 ; RCV000498586 ; RCV001216678
• dbSNP Id: rs397514039
• MyVariant Identifiers: chr6:g.7585118del (hg19) ; chr6:g.7584885del (hg38)
• PubMed: PMID:8769422 ; PMID:11063735

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584885del , CM000668.2:g.7584885del	GRCh38
NC_000006.11:g.7585118del , CM000668.1:g.7585118del	GRCh37
NC_000006.10:g.7530117del	NCBI36
NG_008803.1:g.48249del , LRG_423:g.48249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6294del	ENSP00000518230.1:p.Lys2099SerfsTer19
ENST00000379802.8:c.7623del MANE Select	ENSP00000369129.3:p.Lys2542SerfsTer19
ENST00000379802.7:c.7623del	ENSP00000369129.3:p.Lys2542SerfsTer19
ENST00000418664.2:c.5826del	ENSP00000396591.2:p.Lys1943SerfsTer19
NM_001008844.1:c.5826del	NP_001008844.1:p.Lys1943SerfsTer19
NM_004415.2:c.7623del , LRG_423t1:c.7623del	NP_004406.2:p.Lys2542SerfsTer19
XM_011514323.1:c.6294del	XP_011512625.1:p.Lys2099SerfsTer19
NM_001008844.2:c.5826del	NP_001008844.1:p.Lys1943SerfsTer19
NM_001319034.1:c.6294del	NP_001305963.1:p.Lys2099SerfsTer19
NM_004415.3:c.7623del	NP_004406.2:p.Lys2542SerfsTer19
NM_004415.4:c.7623del MANE Select	NP_004406.2:p.Lys2542SerfsTer19
NM_001008844.3:c.5826del	NP_001008844.1:p.Lys1943SerfsTer19
NM_001319034.2:c.6294del	NP_001305963.1:p.Lys2099SerfsTer19