Canonical Allele Identifier: CA891843113

Gene: DSP

Linked Data

• ClinVar Variation Id: 569376
• ClinVar RCV Id: RCV000689988 ; RCV002352133
• dbSNP Id: rs1561701401
• MyVariant Identifiers: chr6:g.7583268_7583269del (hg19) ; chr6:g.7583035_7583036del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583035_7583036del , CM000668.2:g.7583035_7583036del	GRCh38
NC_000006.11:g.7583268_7583269del , CM000668.1:g.7583268_7583269del	GRCh37
NC_000006.10:g.7528267_7528268del	NCBI36
NG_008803.1:g.46399_46400del , LRG_423:g.46399_46400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4444_4445del	ENSP00000518230.1:p.Gln1482ValfsTer15
ENST00000379802.8:c.5773_5774del MANE Select	ENSP00000369129.3:p.Gln1925ValfsTer15
ENST00000379802.7:c.5773_5774del	ENSP00000369129.3:p.Gln1925ValfsTer15
ENST00000418664.2:c.3976_3977del	ENSP00000396591.2:p.Gln1326ValfsTer15
NM_001008844.1:c.3976_3977del	NP_001008844.1:p.Gln1326ValfsTer15
NM_004415.2:c.5773_5774del , LRG_423t1:c.5773_5774del	NP_004406.2:p.Gln1925ValfsTer15
XM_011514323.1:c.4444_4445del	XP_011512625.1:p.Gln1482ValfsTer15
NM_001008844.2:c.3976_3977del	NP_001008844.1:p.Gln1326ValfsTer15
NM_001319034.1:c.4444_4445del	NP_001305963.1:p.Gln1482ValfsTer15
NM_004415.3:c.5773_5774del	NP_004406.2:p.Gln1925ValfsTer15
NM_004415.4:c.5773_5774del MANE Select	NP_004406.2:p.Gln1925ValfsTer15
NM_001008844.3:c.3976_3977del	NP_001008844.1:p.Gln1326ValfsTer15
NM_001319034.2:c.4444_4445del	NP_001305963.1:p.Gln1482ValfsTer15